{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:38:27Z","timestamp":1788284307592,"version":"build-2803163510"},"reference-count":14,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Synapsins are neuron-specific phosphoproteins that modulate neurotransmitter release, synaptic plasticity, and molecular processes shaping higher brain functions. Pathogenic synapsin-1 (SYN1) variants are associated with epilepsy, intellectual disabilities, and behavioral problems. We detected a novel SYN1 variant [c.477_479delTGG (p.Gly160del)] in brothers with focal epilepsy with secondary generalization. The deleted amino acid was found to be highly conserved among mammalian species. In electroencephalography, the older brother showed a bioelectrical status epilepticus and was also diagnosed with attention deficit hyperactivity disorder. Behavioral abnormalities were seen before or after the seizures. Both patients responded quickly to treatment with valproate. Our case reports are consistent with the clinical heterogeneity of the pathogenic SYN1 variants described in the literature.<\/jats:p>","DOI":"10.1055\/a-2019-0136","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T23:58:50Z","timestamp":1674604730000},"page":"206-210","source":"Crossref","is-referenced-by-count":2,"title":["Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate"],"prefix":"10.1055","volume":"54","author":[{"given":"Ursula Veronika","family":"Leuschner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Klinikum Schw\u00e4bisch Hall, Schw\u00e4bisch Hall, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Kleinle","sequence":"additional","affiliation":[{"name":"MGZ Medizinisch Genetisches Zentrum, M\u00fcnchen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Holzinger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Klinikum Schw\u00e4bisch Hall, Schw\u00e4bisch Hall, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen","family":"Neef","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology, Klinikum Schw\u00e4bisch Hall, Schw\u00e4bisch Hall, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,3,15]]},"reference":[{"issue":"05","key":"ref1","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1083\/jcb.96.5.1374","article-title":"Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III. Its association with synaptic vesicles studied in a highly purified synaptic vesicle preparation","volume":"96","author":"W B Huttner","year":"1983","journal-title":"J Cell Biol"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.pneurobio.2010.04.006","article-title":"The synapsins: key actors of synapse function and plasticity","volume":"91","author":"F Cesca","year":"2010","journal-title":"Prog Neurobiol"},{"issue":"22","key":"ref3","doi-asserted-by":"crossref","first-page":"8679","DOI":"10.1073\/pnas.83.22.8679","article-title":"Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes","volume":"83","author":"T L Yang-Feng","year":"1986","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"20","key":"ref4","doi-asserted-by":"crossref","first-page":"9235","DOI":"10.1073\/pnas.92.20.9235","article-title":"Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice","volume":"92","author":"L Li","year":"1995","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"03","key":"ref5","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jmg.2003.013680","article-title":"Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy","volume":"41","author":"C C Garcia","year":"2004","journal-title":"J Med Genet"},{"issue":"07","key":"ref6","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1111\/epi.13042","article-title":"X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome","volume":"56","author":"D K Nguyen","year":"2015","journal-title":"Epilepsia"},{"key":"ref7","first-page":"06","article-title":"SYN1 gene mutation in a child with focal epilepsy and reflex bathing seizures","author":"D Sirsi","year":"2017","journal-title":"J. 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Epilepsy"},{"issue":"11","key":"ref8","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1111\/epi.14572","article-title":"Hot water epilepsy and SYN1 variants","volume":"59","author":"A Peron","year":"2018","journal-title":"Epilepsia"},{"issue":"01","key":"ref9","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1186\/s12920-021-01028-4","article-title":"Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients","volume":"14","author":"J Xiong","year":"2021","journal-title":"BMC Med Genomics"},{"issue":"12","key":"ref10","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1093\/hmg\/ddr122","article-title":"SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function","volume":"20","author":"A Fassio","year":"2011","journal-title":"Hum Mol Genet"},{"issue":"05","key":"ref11","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"issue":"06","key":"ref12","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.1093\/cercor\/bhn182","article-title":"Opposite changes in glutamatergic and GABAergic transmission underlie the diffuse hyperexcitability of synapsin I-deficient cortical networks","volume":"19","author":"M Chiappalone","year":"2009","journal-title":"Cereb Cortex"},{"issue":"05","key":"ref13","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/j.1365-2710.2005.00671.x","article-title":"Valproate: a simple chemical with so much to offer","volume":"30","author":"G M Peterson","year":"2005","journal-title":"J Clin Pharm Ther"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1126\/science.2506642","article-title":"Synapsins: mosaics of shared and individual domains in a family of synaptic vesicle phosphoproteins","volume":"245","author":"T C S\u00fcdhof","year":"1989","journal-title":"Science"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2019-0136.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T00:12:31Z","timestamp":1683591151000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2019-0136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,24]]},"references-count":14,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2023,5,8]]},"published-print":{"date-parts":[[2023,6]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2019-0136","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,1,24]]},"published":{"date-parts":[[2023,1,24]]}}}