Milder phenotype with SCN1A truncation mutation other than SMEI

Seizure : the Journal of the British Epilepsy Association
Mei-Juan YuWei-Ping Liao

Abstract

Till now truncation mutations of voltage-gated sodium channel alpha subunit type I (SCN1A) gene were mostly found in severe myoclonic epilepsy of infancy (SMEI) patients. In this research we first identified two novel de novo truncation mutations (S662X and M145fx148) in two patients whose phenotypes were quite milder compared with SMEI patients. One patient was diagnosed as generalized epilepsy with febrile seizures plus (GEFS+); the other had focal seizures. Both patients had good response to anti-epileptic therapy (valproate or the combination of valproate and topiramate). Our findings extended the utility of the SCN1A gene testing and further confirmed the complex relationship between genotype and phenotype of SCN1A mutations. Further work is needed to optimize the protocol for specific genetic testing in children with epilepsy.

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Citations

Nov 28, 2013·The Journal of General Physiology·Linda VolkersMartin B Rook
Aug 26, 2011·The European Journal of Neuroscience·Linda VolkersMartin B Rook
Oct 25, 2013·Genes, Brain, and Behavior·A R MillerJ A Kearney
Sep 16, 2011·Seizure : the Journal of the British Epilepsy Association·Francesco NicitaAlberto Spalice
Jul 22, 2011·Seizure : the Journal of the British Epilepsy Association·A A MhanniE L Spriggs
Aug 1, 2012·PloS One·Anna Ka-Yee KwongVirginia Chun-Nei Wong
Aug 15, 2015·Journal of Child Neurology·Semra Gürsoy, Derya Erçal
Jan 13, 2017·Journal of Clinical Neurology·Thi Thu Hang DoChi Bao Bui
Oct 6, 2020·Frontiers in Pharmacology·Luis Felipe Santos MenezesElisabeth Ferroni Schwartz
Apr 26, 2021·Seizure : the Journal of the British Epilepsy Association·Hongxia MaQiongxiang Zhai

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