Results 31 to 40 of about 537,666 (200)
Neurobiology of Disease, 2008 Mutations of SCN1A, encoding the voltage-gated sodium channel α1 subunit, represent the most frequent genetic cause of severe myoclonic epilepsy in infancy (SMEI).
Iori Ohmori +8 more
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Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq. [PDF]
PLoS Genetics, 2016 A substantial number of mutations have been identified in voltage-gated sodium channel genes that result in various forms of human epilepsy. SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-
Nicole A Hawkins +4 more
doaj +1 more source
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation [PDF]
Epilepsia, 2010 SummaryA boy with a clinical history of pharmacologically resistant Dravet syndrome died suddenly after falling asleep. The autopsy concluded that the cause of death was sudden unexpected death in epilepsy (SUDEP). Postmortem molecular analysis of the SCN1A gene by multiplex ligation‐dependent probe amplification (MLPA), high‐resolution melting curve ...
Le Gal, Francois +6 more
openaire +3 more sources
Neurobiology of Disease, 2011 Mutations in the neuronal voltage-gated sodium channel genes SCN1A and SCN2A are associated with inherited epilepsies, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (severe myoclonic epilepsy of infancy).
Nicole A. Hawkins +4 more
doaj +1 more source
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. [PDF]
PLoS Genetics, 2009 A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Na(v)1.7.
Nanda A Singh +12 more
doaj +1 more source
SCN1A mutational analysis in Korean patients with Dravet syndrome [PDF]
Seizure, 2011 The aim of this study was to characterize the SCN1A mutation spectrum in Korean patients with Dravet syndrome.Twenty-nine patients diagnosed with Dravet syndrome at the Seoul National University Children's Hospital were included in the study. Direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to identify SCN1A ...
Lim, Byung Chan +7 more
openaire +2 more sources
Gaining Awareness of Increasingly Persistent SCN1A Mutations
Epilepsy Currents, 2023 [Box: see text]
openaire +2 more sources
Stem Cell Research, 2020 Dravet syndrome is known as an intractable infantile epilepsy caused by a heterozygous de novo mutation in SCN1A, with mutations being reported globally.
Yuichi Kimura +5 more
doaj +1 more source
Expanding spectrum of SCN1A-related phenotype with novel mutations [PDF]
The Turkish Journal of Pediatrics, 2017 Mutations in the genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes, with most of the mutations occurring in SCN1A gene. It is one of the most well-researched epilepsy genes. The SCN1A gene, which seems to be a relevant regulator of excitability of the CNS, is implicated in various epilepsy phenotypes through ...
Hiz-Kurul, Semra +4 more
openaire +4 more sources
Mutation testing on an object-oriented framework: An experience report [PDF]
, 2011 This is the preprint version of the article - Copyright @ 2011 ElsevierContext The increasing presence of Object-Oriented (OO) programs in industrial systems is progressively drawing the attention of mutation researchers toward this paradigm.
Sergio Segura +11 more
core +1 more source