{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T07:26:26Z","timestamp":1770449186549,"version":"3.49.0"},"reference-count":102,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuropharmacology"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.neuropharm.2017.07.030","type":"journal-article","created":{"date-parts":[[2017,7,29]],"date-time":"2017-07-29T20:16:41Z","timestamp":1501359401000},"page":"46-55","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"PA","title":["Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment"],"prefix":"10.1016","volume":"136","author":[{"given":"Dietmar","family":"Benke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanns","family":"M\u00f6hler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.neuropharm.2017.07.030_bib1","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1165\/rcmb.2013-0372OC","article-title":"Effect of Sarizotan, a 5-HT1a and D2-like receptor agonist, on respiration in three mouse models of Rett syndrome","volume":"50","author":"Abdala","year":"2014","journal-title":"Am. J. Respir. Cell Mol. Biol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib2","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1126\/science.1227901","article-title":"Microglia: scapegoat, saboteur, or something else?","volume":"339","author":"Aguzzi","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib3","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1002\/humu.10288","article-title":"Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency","volume":"22","author":"Akaboshi","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib4","doi-asserted-by":"crossref","first-page":"E7287","DOI":"10.1073\/pnas.1615330113","article-title":"Jointly reduced inhibition and excitation underlies circuit-wide changes in cortical processing in Rett syndrome","volume":"113","author":"Banerjee","year":"2016","journal-title":"Proc. Natl. Acad. Sc.i U. S. A."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib5","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.tins.2004.04.009","article-title":"The mGluR theory of fragile X mental retardation","volume":"27","author":"Bear","year":"2004","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib6","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s11689-016-9181-6","article-title":"Arbaclofen in fragile X syndrome: results of phase 3 trials","volume":"9","author":"Berry-Kravis","year":"2017","journal-title":"J.\u00a0Neurodev. Disord."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib7","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1152\/jn.00134.2016","article-title":"Clarithromycin increases neuronal excitability in CA3 pyramidal neurons through a reduction in GABAergic signaling","volume":"117","author":"Bichler","year":"2017","journal-title":"J.\u00a0Neurophysiol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib8","doi-asserted-by":"crossref","first-page":"2985","DOI":"10.4161\/15384101.2014.989114","article-title":"The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome","volume":"14","author":"Braat","year":"2015","journal-title":"Cell Cycle"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib9","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.brainres.2006.02.131","article-title":"Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function","volume":"1090","author":"Buzzi","year":"2006","journal-title":"Brain Res."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib10","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/nature09582","article-title":"Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes","volume":"468","author":"Chao","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib11","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.neuron.2007.08.018","article-title":"MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number","volume":"56","author":"Chao","year":"2007","journal-title":"Neuron"},{"issue":"Suppl.\u00a02","key":"10.1016\/j.neuropharm.2017.07.030_bib12","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1111\/j.1528-1167.2011.03007.x","article-title":"The pharmacologic treatment of Dravet syndrome","volume":"52","author":"Chiron","year":"2011","journal-title":"Epilepsia"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib13","doi-asserted-by":"crossref","first-page":"5401","DOI":"10.1073\/pnas.94.10.5401","article-title":"Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits","volume":"94","author":"Comery","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib14","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1038\/emboj.2011.143","article-title":"The oligomeric state sets GABAB receptor signalling efficacy","volume":"30","author":"Comps-Agrar","year":"2011","journal-title":"EMBO J."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib15","doi-asserted-by":"crossref","first-page":"3780","DOI":"10.1523\/JNEUROSCI.4989-12.2013","article-title":"GABAB receptors regulate extrasynaptic GABAA receptors","volume":"33","author":"Connelly","year":"2013","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib16","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1038\/nm.2058","article-title":"Enhanced tonic GABAA inhibition in typical absence epilepsy","volume":"15","author":"Cope","year":"2009","journal-title":"Nat. Med."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib17","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.pbb.2004.09.008","article-title":"Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy","volume":"79","author":"Cortez","year":"2004","journal-title":"Pharmacol. Biochem. Behav."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib18","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1038\/nature711","article-title":"Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1","volume":"415","author":"Costa","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib19","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/j.cell.2008.09.060","article-title":"Neurofibromin regulation of ERK signaling modulates GABA release and learning","volume":"135","author":"Cui","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib20","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.brainres.2008.11.075","article-title":"Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor\/ataxia syndrome (FXTAS)","volume":"1253","author":"D'Hulst","year":"2009","journal-title":"Brain Res."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib21","doi-asserted-by":"crossref","first-page":"e0131486","DOI":"10.1371\/journal.pone.0131486","article-title":"Positron emission tomography (PET) quantification of GABAA receptors in the brain of fragile X patients","volume":"10","author":"D'Hulst","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib22","doi-asserted-by":"crossref","first-page":"12560","DOI":"10.1073\/pnas.0506071102","article-title":"Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome","volume":"102","author":"Dani","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib23","doi-asserted-by":"crossref","first-page":"11263","DOI":"10.1523\/JNEUROSCI.1019-09.2009","article-title":"Intact long-term potentiation but reduced connectivity between neocortical layer 5 pyramidal neurons in a mouse model of Rett syndrome","volume":"29","author":"Dani","year":"2009","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib24","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s40265-016-0542-y","article-title":"Pharmacotherapy for fragile X syndrome: progress to date","volume":"76","author":"Davenport","year":"2016","journal-title":"Drugs"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib25","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.it.2012.10.002","article-title":"The role of microglia in brain maintenance: implications for Rett syndrome","volume":"34","author":"Derecki","year":"2013","journal-title":"Trends Immunol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib26","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1007\/s10545-008-0941-7","article-title":"SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex","volume":"31","author":"Drasbek","year":"2008","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib27","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1016\/j.neuron.2008.12.007","article-title":"Reversing neurodevelopmental disorders in adults","volume":"60","author":"Ehninger","year":"2008","journal-title":"Neuron"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib28","doi-asserted-by":"crossref","first-page":"e14120","DOI":"10.7554\/eLife.14120","article-title":"Modulation of anxiety and fear via distinct intrahippocampal circuits","volume":"5","author":"Engin","year":"2016","journal-title":"Elife"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib29","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s11689-017-9186-9","article-title":"Fragile X targeted pharmacotherapy: lessons learned and future directions","volume":"9","author":"Erickson","year":"2017","journal-title":"J.\u00a0Neurodev. Disord."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib30","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.brainres.2010.10.108","article-title":"Open-label riluzole in fragile X syndrome","volume":"1380","author":"Erickson","year":"2011","journal-title":"Brain Res."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib31","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s00213-013-3022-z","article-title":"Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome","volume":"228","author":"Erickson","year":"2013","journal-title":"Psychopharmacology"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib32","doi-asserted-by":"crossref","first-page":"e19021","DOI":"10.1371\/journal.pone.0019021","article-title":"Aberrant GABAA receptor-mediated inhibition in cortico-thalamic networks of succinic semialdehyde dehydrogenase deficient mice","volume":"6","author":"Errington","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib33","doi-asserted-by":"crossref","first-page":"6154080","DOI":"10.1155\/2016\/6154080","article-title":"Developmental dynamics of Rett syndrome","volume":"2016","author":"Feldman","year":"2016","journal-title":"Neural Plast."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib34","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/nn1860","article-title":"Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome","volume":"10","author":"Fernandez","year":"2007","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib35","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.neuropharm.2008.06.004","article-title":"The anti-convulsant stiripentol acts directly on the GABAA receptor as a positive allosteric modulator","volume":"56","author":"Fisher","year":"2009","journal-title":"Neuropharmacology"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib36","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nature14135","article-title":"Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders","volume":"519","author":"Fitzgerald","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib37","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S1054-3589(10)58002-5","article-title":"Chemistry and pharmacology of GABAB receptor ligands","volume":"58","author":"Froestl","year":"2010","journal-title":"Adv. Pharmacol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib38","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1016\/j.bcp.2004.07.030","article-title":"SGS742: the first GABAB receptor antagonist in clinical trials","volume":"68","author":"Froestl","year":"2004","journal-title":"Biochem. Pharmacol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib39","doi-asserted-by":"crossref","first-page":"11469","DOI":"10.1523\/JNEUROSCI.23-36-11469.2003","article-title":"Pathway-specific action of \u03b3-hydroxybutyric acid in sensory thalamus and its relevance to absence seizures","volume":"23","author":"Gervasi","year":"2003","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib40","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/S0006-3223(03)00113-6","article-title":"Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (\u03b3-hydroxybutyric aciduria)","volume":"54","author":"Gibson","year":"2003","journal-title":"Biol. Psychiatry"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib41","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/WCO.0000000000000058","article-title":"Aetiology of infantile nystagmus","volume":"27","author":"Gottlob","year":"2014","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib42","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.nbd.2004.04.008","article-title":"Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency","volume":"16","author":"Gupta","year":"2004","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib43","doi-asserted-by":"crossref","first-page":"17004","DOI":"10.1038\/nrdp.2017.4","article-title":"Neurofibromatosis type 1","volume":"3","author":"Gutmann","year":"2017","journal-title":"Nat. Rev. Dis. Prim."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib44","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1016\/j.neuron.2014.01.016","article-title":"Enhancement of inhibitory neurotransmission by GABAA receptors having \u03b12,3-subunits ameliorates behavioral deficits in a mouse model of autism","volume":"81","author":"Han","year":"2014","journal-title":"Neuron"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib45","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1038\/nature11356","article-title":"Autistic-like behaviour in Scn1a+\/- mice and rescue by enhanced GABA-mediated neurotransmission","volume":"489","author":"Han","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib46","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1016\/j.jaac.2012.07.003","article-title":"Trajectories of early brain volume development in fragile X syndrome and autism","volume":"51","author":"Hazlett","year":"2012","journal-title":"J.\u00a0Am. Acad. Child. Adolesc. Psychiatry"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib47","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3004218","article-title":"Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen","volume":"4","author":"Henderson","year":"2012","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib48","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.bbr.2012.01.031","article-title":"Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model","volume":"229","author":"Heulens","year":"2012","journal-title":"Behav. Brain Res."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib49","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/ajmg.1320410306","article-title":"Analysis of neocortex in three males with the fragile X syndrome","volume":"41","author":"Hinton","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib50","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1038\/ng727","article-title":"Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase","volume":"29","author":"Hogema","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib51","doi-asserted-by":"crossref","first-page":"7746","DOI":"10.1073\/pnas.122205699","article-title":"Altered synaptic plasticity in a mouse model of fragile X mental retardation","volume":"99","author":"Huber","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib52","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s00210-008-0290-y","article-title":"Molecular mechanisms of interaction between the neuroprotective substance riluzole and GABAA receptors","volume":"378","author":"Jahn","year":"2008","journal-title":"Naunyn Schmiedeb. Arch. Pharmacol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib53","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1111\/bcp.12070","article-title":"The clinical pharmacology of acamprosate","volume":"77","author":"Kalk","year":"2014","journal-title":"Br. J. Clin. Pharmacol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib54","doi-asserted-by":"crossref","first-page":"4596","DOI":"10.1073\/pnas.1311141111","article-title":"Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome","volume":"111","author":"Khwaja","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib55","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1017\/S1092852900016874","article-title":"Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients","volume":"13","author":"Knerr","year":"2008","journal-title":"CNS Spectr."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib56","doi-asserted-by":"crossref","first-page":"4585","DOI":"10.1128\/MCB.00334-12","article-title":"Distinct roles of DBHS family members in the circadian transcriptional feedback loop","volume":"32","author":"Kowalska","year":"2012","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib57","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1212\/WNL.0000000000001906","article-title":"Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood","volume":"85","author":"Lapalme-Remis","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib58","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/nrneurol.2016.186","article-title":"Clinical and biological progress over 50 years in Rett syndrome","volume":"13","author":"Leonard","year":"2017","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib59","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.yebeh.2011.04.060","article-title":"Autism in Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation","volume":"21","author":"Li","year":"2011","journal-title":"Epilepsy Behav."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib60","doi-asserted-by":"crossref","first-page":"158","DOI":"10.5582\/irdr.2016.01045","article-title":"Review of targeted treatments in fragile X syndrome","volume":"5","author":"Ligsay","year":"2016","journal-title":"Intractable Rare Dis. Res."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib61","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1177\/0883073814544365","article-title":"A\u00a0novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency","volume":"30","author":"Lin","year":"2015","journal-title":"J.\u00a0Child. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib62","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/nature10214","article-title":"A\u00a0role for glia in the progression of Rett's syndrome","volume":"475","author":"Lioy","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib63","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.neuint.2016.06.009","article-title":"Succinic semialdehyde dehydrogenase deficiency (SSADHD): pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism","volume":"99","author":"Malaspina","year":"2016","journal-title":"Neurochem. Int."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib64","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1111\/j.1530-0277.2008.00690.x","article-title":"Acamprosate: recent findings and future research directions","volume":"32","author":"Mann","year":"2008","journal-title":"Alcohol Clin. Exp. Res."},{"issue":"Pt 2","key":"10.1016\/j.neuropharm.2017.07.030_bib65","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.neubiorev.2013.12.008","article-title":"Treating enhanced GABAergic inhibition in Down syndrome: use of GABA \u03b15-selective inverse agonists","volume":"46","author":"Martinez-Cue","year":"2014","journal-title":"Neurosci. Biobehav. Rev."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib66","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1152\/jn.00826.2007","article-title":"Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome","volume":"99","author":"Medrihan","year":"2008","journal-title":"J.\u00a0Neurophysiol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib67","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.neubiorev.2016.12.037","article-title":"The BTBR mouse model of idiopathic autism - current view on mechanisms","volume":"76","author":"Meyza","year":"2017","journal-title":"Neurosci. Biobehav. Rev."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib68","doi-asserted-by":"crossref","first-page":"1731","DOI":"10.1038\/nn.4169","article-title":"Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects","volume":"18","author":"Mircsof","year":"2015","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib69","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1016\/j.bcp.2012.06.028","article-title":"Cognitive enhancement by pharmacological and behavioral interventions: the murine Down syndrome model","volume":"84","author":"M\u00f6hler","year":"2012","journal-title":"Biochem. Pharmacol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib70","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/bs.apha.2014.10.008","article-title":"The legacy of the benzodiazepine receptor: from flumazenil to enhancing cognition in Down syndrome and social interaction in autism","volume":"72","author":"M\u00f6hler","year":"2015","journal-title":"Adv. Pharmacol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib71","doi-asserted-by":"crossref","first-page":"5903","DOI":"10.1523\/JNEUROSCI.5270-06.2007","article-title":"Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation","volume":"27","author":"Ogiwara","year":"2007","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib72","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1159\/000332884","article-title":"The GABAA receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome","volume":"33","author":"Olmos-Serrano","year":"2011","journal-title":"Dev. Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib73","doi-asserted-by":"crossref","first-page":"217","DOI":"10.3233\/PEP-14097","article-title":"Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies","volume":"3","author":"Parviz","year":"2014","journal-title":"Pediatr. Epilepsy"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib74","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1097\/00019052-200404000-00005","article-title":"Clinical aspects of the disorders of GABA metabolism in children","volume":"17","author":"Pearl","year":"2004","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib75","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1212\/WNL.0b013e3181b163a5","article-title":"Decreased GABAA binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency","volume":"73","author":"Pearl","year":"2009","journal-title":"Neurology"},{"issue":"Suppl.\u00a06","key":"10.1016\/j.neuropharm.2017.07.030_bib76","doi-asserted-by":"crossref","first-page":"S73","DOI":"10.1002\/ana.10629","article-title":"Succinic semialdehyde dehydrogenase deficiency in children and adults","volume":"54","author":"Pearl","year":"2003","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib77","doi-asserted-by":"crossref","first-page":"e73108","DOI":"10.1371\/journal.pone.0073108","article-title":"FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling","volume":"8","author":"Pu","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib78","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1002\/ajmg.a.36030","article-title":"A\u00a0novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family","volume":"161A","author":"Puttmann","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib79","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1212\/WNL.0b013e31825dcf71","article-title":"GABAB-ergic motor cortex dysfunction in SSADH deficiency","volume":"79","author":"Reis","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib80","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1097\/WCO.0b013e328336eb13","article-title":"Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder","volume":"23","author":"Rubenstein","year":"2010","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib81","doi-asserted-by":"crossref","first-page":"584071","DOI":"10.1155\/2012\/584071","article-title":"Mouse models of Down syndrome as a tool to unravel the causes of mental disabilities","volume":"2012","author":"Rueda","year":"2012","journal-title":"Neural. Plast."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib82","doi-asserted-by":"crossref","first-page":"10868","DOI":"10.1523\/JNEUROSCI.3027-06.2006","article-title":"Role of bone morphogenic protein 2 in retinal patterning and retinotectal projection","volume":"26","author":"Sakuta","year":"2006","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib83","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1007\/s11064-013-1229-3","article-title":"From FMRP function to potential therapies for fragile X syndrome","volume":"39","author":"Sethna","year":"2014","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib84","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S0014-5793(02)03447-6","article-title":"PSF and p54(nrb)\/NonO - multi-functional nuclear proteins","volume":"531","author":"Shav-Tal","year":"2002","journal-title":"FEBS Lett."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib85","doi-asserted-by":"crossref","first-page":"13141","DOI":"10.1073\/pnas.1004829107","article-title":"Neurofibromin regulates corticostriatal inhibitory networks during working memory performance","volume":"107","author":"Shilyansky","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib86","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1146\/annurev-neuro-060909-153215","article-title":"Molecular and cellular mechanisms of learning disabilities: a focus on NF1","volume":"33","author":"Shilyansky","year":"2010","journal-title":"Annu. Rev. Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib87","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1038\/nn.3032","article-title":"Transcriptional code and disease map for adult retinal cell types","volume":"15","author":"Siegert","year":"2012","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib88","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.ajhg.2013.09.013","article-title":"The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies","volume":"93","author":"Steinberg","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib89","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1212\/WNL.0000000000003868","article-title":"Impaired intracortical inhibition demonstrated in\u00a0vivo in people with Dravet syndrome","volume":"88","author":"Stern","year":"2017","journal-title":"Neurology"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib90","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.yebeh.2009.01.019","article-title":"Severity of atypical absence phenotype in GABAB transgenic mice is subunit specific","volume":"14","author":"Stewart","year":"2009","journal-title":"Epilepsy Behav."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib91","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1038\/nn.4420","article-title":"Lessons learned from studying syndromic autism spectrum disorders","volume":"19","author":"Sztainberg","year":"2016","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib92","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1177\/0883073814540523","article-title":"Succinic semialdehyde dehydrogenase deficiency in a Chinese boy: a novel ALDH5A1 mutation with severe phenotype","volume":"30","author":"Tay","year":"2015","journal-title":"J.\u00a0Child. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib93","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1177\/0269881113515062","article-title":"Improvement in daytime sleepiness with clarithromycin in patients with GABA-related hypersomnia: clinical experience","volume":"28","author":"Trotti","year":"2014","journal-title":"J.\u00a0Psychopharmacol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib94","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/nrn3670","article-title":"Gephyrin: a master regulator of neuronal function?","volume":"15","author":"Tyagarajan","year":"2014","journal-title":"Nat. Rev. Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib95","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.expneurol.2010.05.022","article-title":"Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice","volume":"225","author":"Vardya","year":"2010","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib96","article-title":"Human stem cell modeling in neurofibromatosis type 1 (NF1)","author":"Wegscheid","year":"2017","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib97","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/ana.20686","article-title":"Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms","volume":"59","author":"Wu","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib98","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.nbd.2007.01.013","article-title":"Transgenic mice over-expressing GABABR1a receptors acquire an atypical absence epilepsy-like phenotype","volume":"26","author":"Wu","year":"2007","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib99","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.neuron.2015.11.032","article-title":"Congenital nystagmus gene FRMD7 is necessary for establishing a neuronal circuit asymmetry for direction selectivity","volume":"89","author":"Yonehara","year":"2016","journal-title":"Neuron"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib100","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/nn1754","article-title":"Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy","volume":"9","author":"Yu","year":"2006","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuropharm.2017.07.030_bib101","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/hipo.20389","article-title":"The MeCP2-null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability","volume":"18","author":"Zhang","year":"2008","journal-title":"Hippocampus"},{"key":"10.1016\/j.neuropharm.2017.07.030_bib102","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.cell.2016.09.039","article-title":"Rett syndrome and the ongoing legacy of close clinical observation","volume":"167","author":"Zoghbi","year":"2016","journal-title":"Cell"}],"container-title":["Neuropharmacology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0028390817303611?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0028390817303611?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,22]],"date-time":"2019-06-22T13:28:31Z","timestamp":1561210111000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0028390817303611"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":102,"alternative-id":["S0028390817303611"],"URL":"https:\/\/doi.org\/10.1016\/j.neuropharm.2017.07.030","relation":{},"ISSN":["0028-3908"],"issn-type":[{"value":"0028-3908","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment","name":"articletitle","label":"Article Title"},{"value":"Neuropharmacology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neuropharm.2017.07.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}