Article
PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2016
Schoonjans An-Sofie, Meuwissen Marije, Reyniers Edwin, Kooy Frank, Ceulemans Berten
Abstract excerpt
BACKGROUND: Biallelic loss-of-function mutations of phospholipase C-β1 (PLCB1) have been described in three children with an early onset epileptic encephalopathy (EE). In two of them a homozygous deletion of the promotor and first three coding exons was found. The third patient had an almost identical heterozygous deletion in combination with a heterozygous splice site variant. All patients had intractable...
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