{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T11:55:52Z","timestamp":1771588552324,"version":"3.50.1"},"reference-count":111,"publisher":"Elsevier","isbn-type":[{"value":"9780128216859","type":"print"}],"license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020]]},"DOI":"10.1016\/bs.adgen.2020.03.002","type":"book-chapter","created":{"date-parts":[[2020,5,26]],"date-time":"2020-05-26T17:29:57Z","timestamp":1590514197000},"page":"137-174","source":"Crossref","is-referenced-by-count":20,"title":["\u201cElectrifying dysmorphology\u201d: Potassium channelopathies causing dysmorphic syndromes"],"prefix":"10.1016","member":"78","reference":[{"issue":"22","key":"10.1016\/bs.adgen.2020.03.002_bb0010","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1056\/NEJM199705293362207","article-title":"Ion channels\u2014Basic science and clinical disease","volume":"336","author":"Ackerman","year":"1997","journal-title":"The New England Journal of Medicine"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0015","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1056\/NEJMoa1716153","article-title":"Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis","volume":"379","author":"Adams","year":"2018","journal-title":"The New England Journal of Medicine"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0020","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1146\/annurev-physiol-020911-153336","article-title":"Small-conductance Ca2+-activated K+ channels: Form and function","volume":"74","author":"Adelman","year":"2012","journal-title":"Annual Review of Physiology"},{"issue":"11","key":"10.1016\/bs.adgen.2020.03.002_bb0025","first-page":"349","article-title":"Elephantiasis gingivae. Report of an affected family with associated hepatomegaly, soft tissue & skeletal abnormalities","volume":"37","author":"Alavandar","year":"1965","journal-title":"The Journal of the All India Dental Association"},{"issue":"5","key":"10.1016\/bs.adgen.2020.03.002_bb0030","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1111\/j.1651-2227.1971.tb06990.x","article-title":"Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?","volume":"60","author":"Andersen","year":"1971","journal-title":"Acta Paediatrica Scandinavica"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0035","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/0898-6568(90)90048-F","article-title":"Properties and functions of ATP-sensitive K-channels","volume":"2","author":"Ashcroft","year":"1990","journal-title":"Cellular Signalling"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0040","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1097\/MCD.0b013e328333c239","article-title":"Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures","volume":"19","author":"Balasubramanian","year":"2010","journal-title":"Clinical Dysmorphology"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0045","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1093\/cercor\/bhs387","article-title":"Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex","volume":"24","author":"Bando","year":"2014","journal-title":"Cerebral Cortex"},{"issue":"2","key":"10.1016\/bs.adgen.2020.03.002_bb0050","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ajhg.2008.07.010","article-title":"Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9","volume":"83","author":"Barel","year":"2008","journal-title":"American Journal of Human Genetics"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0055","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1007\/s00424-017-2092-x","article-title":"Inhibition of the K+ conductance and Cole-Moore shift of the oncogenic Kv10.1 channel by amiodarone","volume":"470","author":"Barriga-Montoya","year":"2018","journal-title":"Pfl\u00fcgers Archiv: European Journal of Physiology"},{"issue":"8","key":"10.1016\/bs.adgen.2020.03.002_bb0060","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1002\/ajmg.a.32975","article-title":"Keppen-Lubinsky syndrome: Expanding the phenotype","volume":"149A","author":"Basel-Vanagaite","year":"2009","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0065","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/j.ajhg.2018.09.001","article-title":"Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome","volume":"103","author":"Bauer","year":"2018","journal-title":"American Journal of Human Genetics"},{"issue":"6","key":"10.1016\/bs.adgen.2020.03.002_bb0070","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1016\/j.ajhg.2019.04.012","article-title":"Gain-of-function mutations in KCNN3 encoding the small-conductance Ca2+-activated K+ channel SK3 cause Zimmermann-Laband syndrome","volume":"104","author":"Bauer","year":"2019","journal-title":"American Journal of Human Genetics"},{"issue":"12","key":"10.1016\/bs.adgen.2020.03.002_bb0075","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/qjmed\/93.12.787","article-title":"Neurological potassium channelopathies","volume":"93","author":"Benatar","year":"2000","journal-title":"QJM: Monthly Journal of the Association of Physicians"},{"issue":"14","key":"10.1016\/bs.adgen.2020.03.002_bb0080","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1002\/cmdc.201600147","article-title":"New disaccharide-based ether lipids as SK3 ion channel inhibitors","volume":"11","author":"Berthe","year":"2016","journal-title":"ChemMedChem"},{"issue":"10","key":"10.1016\/bs.adgen.2020.03.002_bb0085","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1007\/s00439-015-1590-1","article-title":"\u201cSplitting versus lumping\u201d: Temple-Baraitser and Zimmermann-Laband Syndromes","volume":"134","author":"Bramswig","year":"2015","journal-title":"Human Genetics"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0090","doi-asserted-by":"crossref","first-page":"139","DOI":"10.4161\/chan.20973","article-title":"Two-pore domain potassium channels: Variation on a structural theme","volume":"6","author":"Braun","year":"2012","journal-title":"Channels"},{"issue":"7529","key":"10.1016\/bs.adgen.2020.03.002_bb0095","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/nature14013","article-title":"Physical mechanism for gating and mechanosensitivity of the human TRAAK K+ channel","volume":"516","author":"Brohawn","year":"2014","journal-title":"Nature"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0100","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1146\/annurev-pharmtox-010919-023420","article-title":"Pharmacology of small- and intermediate-conductance calcium-activated potassium channels","volume":"60","author":"Brown","year":"2020","journal-title":"Annual Review of Pharmacology and Toxicology"},{"issue":"12","key":"10.1016\/bs.adgen.2020.03.002_bb0105","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1016\/j.ejmg.2013.09.009","article-title":"Mutation of KCNJ8 in a patient with Cant\u00fa syndrome with unique vascular abnormalities\u2014Support for the role of K(ATP) channels in this condition","volume":"56","author":"Brownstein","year":"2013","journal-title":"European Journal of Medical Genetics"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0110","series-title":"Muscle","first-page":"1013","article-title":"Channelopathies of skeletal muscle excitability","author":"Cannon","year":"2012"},{"issue":"10","key":"10.1016\/bs.adgen.2020.03.002_bb0115","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/j.ejmg.2013.08.004","article-title":"Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review","volume":"56","author":"Castori","year":"2013","journal-title":"European Journal of Medical Genetics"},{"issue":"4875","key":"10.1016\/bs.adgen.2020.03.002_bb0120","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1126\/science.2459775","article-title":"Structure and function of voltage-sensitive ion channels","volume":"242","author":"Catterall","year":"1988","journal-title":"Science"},{"issue":"5","key":"10.1016\/bs.adgen.2020.03.002_bb0125","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1139\/bcb-2017-0062","article-title":"Kv10.1 potassium channel: From the brain to the tumors","volume":"95","author":"C\u00e1zares-Ordo\u00f1ez","year":"2017","journal-title":"Biochemistry and Cell Biology-Biochimie et Biologie Cellulaire"},{"issue":"7","key":"10.1016\/bs.adgen.2020.03.002_bb0130","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1002\/ajmg.a.34030","article-title":"Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome","volume":"155A","author":"Chacon-Camacho","year":"2011","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0135","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/ajmg.1320250317","article-title":"Zimmerman-Laband syndrome and profound mental retardation","volume":"25","author":"Chodirker","year":"1986","journal-title":"American Journal of Medical Genetics"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0140","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/s41525-018-0053-8","article-title":"Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases","volume":"3","author":"Clark","year":"2018","journal-title":"NPJ Genomic Medicine"},{"issue":"7","key":"10.1016\/bs.adgen.2020.03.002_bb0145","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1002\/humu.22555","article-title":"Cant\u00fa syndrome resulting from activating mutation in the KCNJ8 gene","volume":"35","author":"Cooper","year":"2014","journal-title":"Human Mutation"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0150","first-page":"1","article-title":"Wide clinical spectrum in Zimmermann-Laband syndrome","volume":"22","author":"Davalos","year":"2011","journal-title":"Genetic Counseling"},{"issue":"2","key":"10.1016\/bs.adgen.2020.03.002_bb0155","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/ajmg.a.10936","article-title":"New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome?","volume":"117A","author":"De Brasi","year":"2003","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0160","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/ajmg.1320310326","article-title":"A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis","volume":"31","author":"de Pina Neto","year":"1988","journal-title":"American Journal of Medical Genetics"},{"issue":"12","key":"10.1016\/bs.adgen.2020.03.002_bb0165","first-page":"1805","article-title":"Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation","volume":"15","author":"Delannoy","year":"2013","journal-title":"Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology"},{"issue":"6088","key":"10.1016\/bs.adgen.2020.03.002_bb0170","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1136\/bmj.2.6088.667","article-title":"Minoxidil for severe hypertension after failure of other hypotensive drugs","volume":"2","author":"Devine","year":"1977","journal-title":"British Medical Journal"},{"issue":"11","key":"10.1016\/bs.adgen.2020.03.002_bb0175","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1212\/01.WNL.0000072261.14060.47","article-title":"PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome","volume":"60","author":"Donaldson","year":"2003","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0180","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1097\/MCD.0b013e32832dc393","article-title":"Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: Case report and overview","volume":"18","author":"Douzgou","year":"2009","journal-title":"Clinical Dysmorphology"},{"issue":"5","key":"10.1016\/bs.adgen.2020.03.002_bb0185","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/S0026-895X(24)26499-3","article-title":"The neuroprotective agent riluzole activates the two P domain K(+) channels TREK-1 and TRAAK","volume":"57","author":"Duprat","year":"2000","journal-title":"Molecular Pharmacology"},{"issue":"12","key":"10.1016\/bs.adgen.2020.03.002_bb0190","doi-asserted-by":"crossref","first-page":"2587","DOI":"10.1113\/jphysiol.2014.287268","article-title":"The family of K2P channels: Salient structural and functional properties","volume":"593","author":"Feliciangeli","year":"2015","journal-title":"The Journal of Physiology"},{"issue":"18","key":"10.1016\/bs.adgen.2020.03.002_bb0195","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"The New England Journal of Medicine"},{"issue":"5","key":"10.1016\/bs.adgen.2020.03.002_bb0200","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/jhg.2016.1","article-title":"De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures","volume":"61","author":"Fukai","year":"2016","journal-title":"Journal of Human Genetics"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0205","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/ajmg.a.32129","article-title":"A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome)","volume":"146A","author":"Gabbett","year":"2008","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0210","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1097\/MCD.0b013e32833d015c","article-title":"Cantu syndrome and lymphoedema","volume":"20","author":"Garc\u00eda-Cruz","year":"2011","journal-title":"Clinical Dysmorphology"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0215","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1085\/jgp.200409041","article-title":"Mechanism of block of hEag1 K+ channels by imipramine and astemizole","volume":"124","author":"Garc\u00eda-Ferreiro","year":"2004","journal-title":"The Journal of General Physiology"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0220","series-title":"Rare disease registries","author":"Gliklich","year":"2014"},{"issue":"18","key":"10.1016\/bs.adgen.2020.03.002_bb0225","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1056\/NEJMoa032922","article-title":"Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes","volume":"350","author":"Gloyn","year":"2004","journal-title":"The New England Journal of Medicine"},{"issue":"5","key":"10.1016\/bs.adgen.2020.03.002_bb0230","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1080\/19336950.2017.1340072","article-title":"Mibefradil inhibition of the Cole-Moore shift and K+-conductance of the tumor-related Kv10.1 channel","volume":"11","author":"G\u00f3mez-Lagunas","year":"2017","journal-title":"Channels"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0235","series-title":"Syndromes of the head and neck","first-page":"1179","article-title":"Keppen-Lubinsky syndrome","year":"2001"},{"issue":"10","key":"10.1016\/bs.adgen.2020.03.002_bb0240","doi-asserted-by":"crossref","first-page":"2632","DOI":"10.1002\/ajmg.a.37740","article-title":"KCNK9 imprinting syndrome-further delineation of a possible treatable disorder","volume":"170","author":"Graham","year":"2016","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"15","key":"10.1016\/bs.adgen.2020.03.002_bb0245","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1002\/ajmg.a.31348","article-title":"Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations","volume":"140","author":"Grange","year":"2006","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0250","series-title":"GeneReviews\u00ae","article-title":"Cant\u00fa syndrome and related disorders","author":"Grange","year":"2014"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0255","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1002\/ajmg.c.31753","article-title":"Cant\u00fa syndrome: Findings from 74 patients in the international Cant\u00fa syndrome registry","volume":"181","author":"Grange","year":"2019","journal-title":"American Journal of Medical Genetics. Part C, Seminars in Medical Genetics"},{"issue":"7","key":"10.1016\/bs.adgen.2020.03.002_bb0260","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1038\/ng.2324","article-title":"Dominant missense mutations in ABCC9 cause Cant\u00fa syndrome","volume":"44","author":"Harakalova","year":"2012","journal-title":"Nature Genetics"},{"issue":"5","key":"10.1016\/bs.adgen.2020.03.002_bb0265","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/j.neuropharm.2003.11.023","article-title":"Trichloroethanol enhances the activity of recombinant human TREK-1 and TRAAK channels","volume":"46","author":"Harinath","year":"2004","journal-title":"Neuropharmacology"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0270","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/S0006-3495(94)80887-2","article-title":"Mutations in the K+ channel signature sequence","volume":"66","author":"Heginbotham","year":"1994","journal-title":"Biophysical Journal"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0275","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1152\/physrev.00021.2009","article-title":"Inwardly rectifying potassium channels: Their structure, function, and physiological roles","volume":"90","author":"Hibino","year":"2010","journal-title":"Physiological Reviews"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0280","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.neuroscience.2018.05.031","article-title":"Gain-of-function KCNJ6 mutation in a severe hyperkinetic movement disorder phenotype","volume":"384","author":"Horvath","year":"2018","journal-title":"Neuroscience"},{"issue":"9","key":"10.1016\/bs.adgen.2020.03.002_bb0285","doi-asserted-by":"crossref","first-page":"2322","DOI":"10.1002\/ajmg.a.33574","article-title":"Temple-Baraitser syndrome: A rare and possibly unrecognized condition","volume":"152A","author":"Jacquinet","year":"2010","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"6493","key":"10.1016\/bs.adgen.2020.03.002_bb0290","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/371119a0","article-title":"Potassium channels and their evolving gates","volume":"371","author":"Jan","year":"1994","journal-title":"Nature"},{"issue":"2","key":"10.1016\/bs.adgen.2020.03.002_bb0295","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/j.hrthm.2013.11.003","article-title":"Combined inhibition of Na+ and Ca2+ channels: A novel paradigm for the treatment of incessant ventricular arrhythmias in Andersen-Tawil syndrome","volume":"11","author":"Janson","year":"2014","journal-title":"Heart Rhythm: The Official Journal of the Heart Rhythm Society"},{"issue":"7","key":"10.1016\/bs.adgen.2020.03.002_bb0300","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1002\/ppul.21215","article-title":"Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome","volume":"45","author":"Kobayashi","year":"2010","journal-title":"Pediatric Pulmonology"},{"issue":"6","key":"10.1016\/bs.adgen.2020.03.002_bb0305","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/ng.3282","article-title":"Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome","volume":"47","author":"Kort\u00fcm","year":"2015","journal-title":"Nature Genetics"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0310","doi-asserted-by":"crossref","first-page":"258","DOI":"10.3389\/fnmol.2018.00258","article-title":"Physiological roles and therapeutic potential of Ca2+ activated potassium channels in the nervous system","volume":"11","author":"Kshatri","year":"2018","journal-title":"Frontiers in Molecular Neuroscience"},{"issue":"19","key":"10.1016\/bs.adgen.2020.03.002_bb0315","doi-asserted-by":"crossref","first-page":"3677","DOI":"10.1007\/s00018-015-1948-5","article-title":"Structure of potassium channels","volume":"72","author":"Kuang","year":"2015","journal-title":"Cellular and Molecular Life Sciences: CMLS"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0320","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/0030-4220(64)90506-7","article-title":"Hereditary gingival fibromatosis. Report of an affected family with associated splenomegaly and skeletal and soft-tissue abnormalities","volume":"17","author":"Laband","year":"1964","journal-title":"Oral Surgery, Oral Medicine, and Oral Pathology"},{"issue":"18","key":"10.1016\/bs.adgen.2020.03.002_bb0325","doi-asserted-by":"crossref","first-page":"1880","DOI":"10.1001\/jama.2014.14604","article-title":"Clinical exome sequencing for genetic identification of rare Mendelian disorders","volume":"312","author":"Lee","year":"2014","journal-title":"JAMA: The Journal of the American Medical Association"},{"issue":"8","key":"10.1016\/bs.adgen.2020.03.002_bb0330","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s11892-019-1175-9","article-title":"Precision medicine: Long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations","volume":"19","author":"Letourneau","year":"2019","journal-title":"Current Diabetes Reports"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0335","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.bcp.2018.08.038","article-title":"Novel venom-derived inhibitors of the human EAG channel, a putative antiepileptic drug target","volume":"158","author":"Ma","year":"2018","journal-title":"Biochemical Pharmacology"},{"issue":"8","key":"10.1016\/bs.adgen.2020.03.002_bb0340","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1002\/ajmg.a.61200","article-title":"Glibenclamide treatment in a Cant\u00fa syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience","volume":"179","author":"Ma","year":"2019","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"7","key":"10.1016\/bs.adgen.2020.03.002_bb0345","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1016\/j.cell.2014.04.040","article-title":"Mycobacterial toxin induces analgesia in buruli ulcer by targeting the angiotensin pathways","volume":"157","author":"Marion","year":"2014","journal-title":"Cell"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0350","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.ceb.2008.03.015","article-title":"The V-type H+-ATPase in vesicular trafficking: Targeting, regulation and function","volume":"20","author":"Marshansky","year":"2008","journal-title":"Current Opinion in Cell Biology"},{"issue":"2","key":"10.1016\/bs.adgen.2020.03.002_bb0355","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.ajhg.2014.12.011","article-title":"Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6","volume":"96","author":"Masotti","year":"2015","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0360","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1172\/JCI130571","article-title":"Glibenclamide reverses cardiovascular abnormalities of Cantu Syndrome driven by KATP channel overactivity","volume":"130","author":"McClenaghan","year":"2020","journal-title":"The Journal of Clinical Investigation"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0365","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/S0006-8993(00)03239-X","article-title":"The neuroprotective agent sipatrigine (BW619C89) potently inhibits the human tandem pore-domain K(+) channels TREK-1 and TRAAK","volume":"892","author":"Meadows","year":"2001","journal-title":"Brain Research"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0370","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s00424-019-02342-8","article-title":"Dronedarone blockage of the tumor-related Kv10.1 channel: A comparison with amiodarone","volume":"472","author":"Mel\u00e9ndez","year":"2020","journal-title":"Pfl\u00fcgers Archiv: European Journal of Physiology"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0375","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1002\/ccr3.761","article-title":"Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation","volume":"5","author":"Menendez","year":"2017","journal-title":"Clinical Case Reports"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0380","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.hrthm.2014.12.009","article-title":"Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations","volume":"12","author":"Miyamoto","year":"2015","journal-title":"Heart Rhythm: The Official Journal of the Heart Rhythm Society"},{"issue":"12","key":"10.1016\/bs.adgen.2020.03.002_bb0385","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0188811","article-title":"Synthesis of novel purpurealidin analogs and evaluation of their effect on the cancer-relevant potassium channel KV10.1","volume":"12","author":"Moreels","year":"2017","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0390","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.cardiores.2007.04.028","article-title":"Mechanism of U wave and polymorphic ventricular tachycardia in a canine tissue model of Andersen-Tawil syndrome","volume":"75","author":"Morita","year":"2007","journal-title":"Cardiovascular Research"},{"issue":"9","key":"10.1016\/bs.adgen.2020.03.002_bb0395","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1038\/emboj.2009.57","article-title":"The mechano-activated K+ channels TRAAK and TREK-1 control both warm and cold perception","volume":"28","author":"No\u00ebl","year":"2009","journal-title":"The EMBO Journal"},{"issue":"8","key":"10.1016\/bs.adgen.2020.03.002_bb0400","doi-asserted-by":"crossref","first-page":"2118","DOI":"10.1002\/ajmg.a.36563","article-title":"A patient with Cant\u00fa syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension","volume":"164A","author":"Park","year":"2014","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"2","key":"10.1016\/bs.adgen.2020.03.002_bb0405","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/ng1095-126","article-title":"A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation","volume":"11","author":"Patil","year":"1995","journal-title":"Nature Genetics"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0410","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1055\/s-2007-1025313","article-title":"The Zimmermann-Laband syndrome","volume":"204","author":"Pfeiffer","year":"1992","journal-title":"Klinische P\u00e4diatrie"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0415","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/S0092-8674(01)00342-7","article-title":"Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome","volume":"105","author":"Plaster","year":"2001","journal-title":"Cell"},{"issue":"18","key":"10.1016\/bs.adgen.2020.03.002_bb0420","doi-asserted-by":"crossref","first-page":"2717","DOI":"10.1093\/hmg\/ddi305","article-title":"Functional effects of KCNJ11 mutations causing neonatal diabetes: Enhanced activation by MgATP","volume":"14","author":"Proks","year":"2005","journal-title":"Human Molecular Genetics"},{"issue":"Suppl. 3","key":"10.1016\/bs.adgen.2020.03.002_bb0425","doi-asserted-by":"crossref","first-page":"S368","DOI":"10.2337\/diabetes.51.2007.S368","article-title":"Sulfonylurea stimulation of insulin secretion","volume":"51","author":"Proks","year":"2002","journal-title":"Diabetes"},{"issue":"2","key":"10.1016\/bs.adgen.2020.03.002_bb0430","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1111\/pace.13569","article-title":"Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype","volume":"42","author":"Rai","year":"2019","journal-title":"Pacing and Clinical Electrophysiology"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0435","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1073\/pnas.70.1.240","article-title":"Weaver mutant mouse cerebellum: defective neuronal migration secondary to abnormality of Bergmann glia","volume":"70","author":"Rakic","year":"1973","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0440","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/clpt.1981.128","article-title":"Minoxidil and pericardial effusion: An idiosyncratic reaction","volume":"30","author":"Reichgott","year":"1981","journal-title":"Clinical Pharmacology and Therapeutics"},{"issue":"6","key":"10.1016\/bs.adgen.2020.03.002_bb0445","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/S0028-3908(97)00029-4","article-title":"Potassium channelopathies","volume":"36","author":"Sanguinetti","year":"1997","journal-title":"Neuropharmacology"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0450","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1002\/ajmg.a.33885","article-title":"Cant\u00fa syndrome: Report of nine new cases and expansion of the clinical phenotype","volume":"155A","author":"Scurr","year":"2011","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0455","doi-asserted-by":"crossref","first-page":"103619","DOI":"10.1016\/j.ejmg.2019.01.009","article-title":"Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome","volume":"63","author":"\u0160ediv\u00e1","year":"2019","journal-title":"European Journal of Medical Genetics"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0460","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1152\/physrev.00016.2014","article-title":"Molecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels","volume":"95","author":"Sep\u00falveda","year":"2015","journal-title":"Physiological Reviews"},{"issue":"2","key":"10.1016\/bs.adgen.2020.03.002_bb0465","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1097\/MCD.0000000000000072","article-title":"Two cases of Temple-Baraitser syndrome: Natural history and further delineation of the clinical and radiologic phenotypes","volume":"24","author":"Shen","year":"2015","journal-title":"Clinical Dysmorphology"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0470","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/ng.3153","article-title":"Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy","volume":"47","author":"Simons","year":"2015","journal-title":"Nature Genetics"},{"issue":"2","key":"10.1016\/bs.adgen.2020.03.002_bb0475","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/S0896-6273(00)80050-1","article-title":"Functional effects of the mouse weaver mutation on G protein-gated inwardly rectifying K+ channels","volume":"16","author":"Slesinger","year":"1996","journal-title":"Neuron"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0480","first-page":"37","article-title":"Genetic neurological channelopathies: Molecular genetics and clinical phenotypes","volume":"87","author":"Spillane","year":"2016","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0485","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/mus.26009","article-title":"Review of the diagnosis and treatment of periodic paralysis","volume":"57","author":"Statland","year":"2018","journal-title":"Muscle & Nerve"},{"issue":"6","key":"10.1016\/bs.adgen.2020.03.002_bb0490","doi-asserted-by":"crossref","first-page":"H2597","DOI":"10.1152\/ajpheart.00393.2006","article-title":"Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: A simulation study","volume":"291","author":"Sung","year":"2006","journal-title":"American Journal of Physiology. Heart and Circulatory Physiology"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0495","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ana.410350313","article-title":"Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features","volume":"35","author":"Tawil","year":"1994","journal-title":"Annals of Neurology"},{"issue":"2","key":"10.1016\/bs.adgen.2020.03.002_bb0500","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/ajmg.1320410207","article-title":"Severe mental retardation and absent nails of hallux and pollex","volume":"41","author":"Temple","year":"1991","journal-title":"American Journal of Medical Genetics"},{"issue":"1\u20132","key":"10.1016\/bs.adgen.2020.03.002_bb0505","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/S0006-8993(03)03222-0","article-title":"The Kir6.1-protein, a pore-forming subunit of ATP-sensitive potassium channels, is prominently expressed by giant cholinergic interneurons in the striatum of the rat brain","volume":"986","author":"Thomzig","year":"2003","journal-title":"Brain Research"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0510","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1172\/JCI15183","article-title":"Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)","volume":"110","author":"Tristani-Firouzi","year":"2002","journal-title":"The Journal of Clinical Investigation"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0515","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ejphar.2019.05.017","article-title":"Chloroquine inhibits tumor-related Kv10.1 channel and decreases migration of MDA-MB-231 breast cancer cells in vitro","volume":"855","author":"Vald\u00e9s-Abad\u00eda","year":"2019","journal-title":"European Journal of Pharmacology"},{"issue":"6","key":"10.1016\/bs.adgen.2020.03.002_bb0520","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1016\/j.ajhg.2012.04.014","article-title":"Cant\u00fa syndrome is caused by mutations in ABCC9","volume":"90","author":"van Bon","year":"2012","journal-title":"American Journal of Human Genetics"},{"issue":"4","key":"10.1016\/bs.adgen.2020.03.002_bb0525","first-page":"321","article-title":"Zimmermann-Laband syndrome in a patient with severe mental retardation","volume":"6","author":"Van Buggenhout","year":"1995","journal-title":"Genetic Counseling"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0530","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1124\/mol.113.090530","article-title":"Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome","volume":"85","author":"Veale","year":"2014","journal-title":"Molecular Pharmacology"},{"issue":"9975","key":"10.1016\/bs.adgen.2020.03.002_bb0535","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/S0140-6736(14)61705-0","article-title":"Genetic diagnosis of developmental disorders in the DDD study: A scalable analysis of genome-wide research data","volume":"385","author":"Wright","year":"2015","journal-title":"The Lancet"},{"issue":"1","key":"10.1016\/bs.adgen.2020.03.002_bb0540","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/j.bbrc.2017.09.002","article-title":"Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3","volume":"493","author":"Wright","year":"2017","journal-title":"Biochemical and Biophysical Research Communications"},{"issue":"3","key":"10.1016\/bs.adgen.2020.03.002_bb0545","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1002\/ajmg.a.36344","article-title":"Report of a patient with Temple-Baraitser syndrome","volume":"164A","author":"Yesil","year":"2014","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"11","key":"10.1016\/bs.adgen.2020.03.002_bb0550","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/cr.2014.77","article-title":"De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome","volume":"24","author":"Yuan","year":"2014","journal-title":"Cell Research"},{"issue":"21","key":"10.1016\/bs.adgen.2020.03.002_bb0555","doi-asserted-by":"crossref","first-page":"2720","DOI":"10.1161\/CIRCULATIONAHA.104.472498","article-title":"Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: Characteristic T-U-wave patterns predict the KCNJ2 genotype","volume":"111","author":"Zhang","year":"2005","journal-title":"Circulation"},{"key":"10.1016\/bs.adgen.2020.03.002_bb0560","first-page":"419","article-title":"\u00dcber Anomalien des Ektoderms","volume":"44","author":"Zimmermann","year":"1928","journal-title":"Vierteljahresschrift fur Zahnheilkunde"}],"container-title":["Advances in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0065266020300055?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0065266020300055?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T19:47:03Z","timestamp":1758743223000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0065266020300055"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"ISBN":["9780128216859"],"references-count":111,"URL":"https:\/\/doi.org\/10.1016\/bs.adgen.2020.03.002","relation":{},"ISSN":["0065-2660"],"issn-type":[{"value":"0065-2660","type":"print"}],"subject":[],"published":{"date-parts":[[2020]]}}}