@article{Tan2012123,
title = {Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient},
author = {E H Tan and A A M Yusoff and J M Abdullah and S A Razak},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870194979&doi=10.4103%2f1817-1745.102575&partnerID=40&md5=b73f0bdb583e84404e0fff232faf30cb},
doi = {10.4103/1817-1745.102575},
issn = {18171745},
year = {2012},
date = {2012-01-01},
journal = {Journal of Pediatric Neurosciences},
volume = {7},
number = {2},
pages = {123-125},
abstract = {In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder).},
note = {cited By 3},
keywords = {Adolescent, Anxiety Disorder, Article, Autism, Carbamazepine, Case Report, Computer Assisted Tomography, Electroencephalogram, Electroencephalography, Febrile Convulsion, Gene, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Human, Karyotype, Malaysia, Male, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Phenotype, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid},
pubstate = {published},
tppubtype = {article}
}