Article
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.
Developmental medicine and child neurology - 1 Nov 2014
Ngoh Adeline, McTague Amy, Wentzensen Ingrid M, Meyer Esther, Applegate Carolyn, Kossoff Eric H, Batista Denise A, Wang Tao, Kurian Manju A
Abstract excerpt
Homozygous deletions of chromosome 20p12.3, disrupting the promoter region and first three coding exons of the phospholipase C β1 gene (PLCB1), have previously been described in two reports of early infantile epileptic encephalopathy (EIEE). Both children were born to consanguineous parents, one presented with infantile spasms, the other with migrating partial seizures of infancy. We describe an infant presenting...
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