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Article

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL 3 pathogenic variants in familial focal epilepsy with variable foci

21 May 2019

Abstract excerpt

Despite tremendous progress through next generation sequencing technologies, familial focal epilepsies are insufficiently understood. We sought to identify the genetic basis in multiplex Palestinian families with familial focal epilepsy with variable foci (FFEVF). Family I with 10 affected individuals and Family II with five affected individuals underwent detailed phenotyping over three generations. The...

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PMID: 31111464
DOI: 10.1111/epi.15665

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