Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Benign familial infantile convulsions (BFIC) are an autosomal dominant form of idiopathic epilepsy in which partial and generalized seizures commence in the first 3 months of life and spontaneously remit by age 1 year. As it is still unknown whether WASF2 and GALE genes are responsible for pure BFIC syndromes, in this article, mutations of the WASF2 and GALE genes in the proband of one Chinese family with pure BFICs were studied. Mutation analysis was carried out by polymerse chain reaction and leoxyribonueleic acid direct sequencing. One exonic variant (1047A-->G) and one intronic variant (IVS10+13A-->G), neither causing a modification of the physiologic messenger ribonucleic acid maturation, were found. The WASF2 and GALE genes do not appear to be involved in the ethiopathogenesis of pure BFIC syndromes, at least in the Chinese family we studied.
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PMID:Mutation analysis of WASF2 and GALE genes in one Chinese family with benign familial infantile convulsions with a novel locus. 1838 69