The single nucleotide polymorphisms (SNPs) was used to investigate the distribution of
genotypes of SCN2A (rs17183814) c. 56 G/A and GABRG2 (rs211037, Asn196Asn) in …

Human NEUROG1 gene encodes a very important protein Neurogenin1, which has been
demonstrated to have an essential role as a transcription factor in the process of …

Objective SCN8A encephalopathy is a developmental epileptic encephalopathy typically
caused by de novo gain‐of‐function mutations in Nav1. 6. Severely affected individuals …

Background: Epilepsy is a pathological condition characterized by recurrent, unprovoked,
epileptic seizures the SCN1Agene represents one of the most commonly mutated human …

Abstract Aim/hypothesis. Neurogenin 3 (NEUROG3) is a member of the subfamily of basic-
helix-loop-helix (bHLH) transcription factors involved in differentiation of the endocrine …

Background Epilepsy is one of the most prevalent neurological disorders. Around 50 million
people worldwide suffer from Epilepsy, 85% of them are from the developing countries. It is a …

PURPOSE: Febrile seizures affect 2-5% of all children younger than 6 years old. A small
proportion of children with febrile seizures later develop epilepsy. Muations in the voltage …

Background GNB1 encodes a subunit of a heterotrimeric G‐protein complex that transduces
intracellular signaling cascades. Disruptions to the gene have previously been shown to be …

Source/Description: A human genomic 1.5 kb EcoRI-PstI fragment from an intron in the
3'region of the GSN gene was selected by hybridization to poly (dC-dA) poly (dG-dT). The …

To investigate the possible correlation between genotype and phenotype of epilepsy, we
analyzed the voltage-gated sodium channel α1-subunit (SCN1A) gene, β1-subunit (SCN1B) …