Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

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 pre...

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Detalles Bibliográficos
Autores principales: Ngoh, Adeline, McTague, Amy, Wentzensen, Ingrid M, Meyer, Esther, Applegate, Carolyn, Kossoff, Eric H, Batista, Denise A, Wang, Tao, Kurian, Manju A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230412/
https://www.ncbi.nlm.nih.gov/pubmed/24684524
http://dx.doi.org/10.1111/dmcn.12450

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230412/
https://www.ncbi.nlm.nih.gov/pubmed/24684524
http://dx.doi.org/10.1111/dmcn.12450

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