Ontology highlight
ABSTRACT:
SUBMITTER: Punetha J
PROVIDER: S-EPMC6689679 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Punetha Jaya J Karaca Ender E Gezdirici Alper A Lamont Ryan E RE Pehlivan Davut D Marafi Dana D Appendino Juan P JP Hunter Jill V JV Akdemir Zeynep C ZC Fatih Jawid M JM Jhangiani Shalini N SN Gibbs Richard A RA Innes A Micheil AM Posey Jennifer E JE Lupski James R JR
Annals of clinical and translational neurology 20190711 8
<h4>Objective</h4>To characterize the molecular and clinical phenotypic basis of developmental and epileptic encephalopathies caused by rare biallelic variants in CACNA2D2.<h4>Methods</h4>Two affected individuals from a family with clinical features of early onset epileptic encephalopathy were recruited for exome sequencing at the Centers for Mendelian Genomics to identify their molecular diagnosis. GeneMatcher facilitated identification of a second family with a shared candidate disease gene id ...[more]