Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

  title={Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy},
  author={Jaya Punetha and Elif Gizem Karaca and Alper Gezdirici and Ryan E Lamont and Davut Pehlivan and Dana Marafi and Juan Pablo Appendino and Jill V. Hunter and Zeynep Coban Akdemir and Jawid M Fatih and Shalini N. Jhangiani and Richard A. Gibbs and A Micheil Innes and Jennifer E Posey and James R Lupski},
  booktitle={Annals of clinical and translational neurology},
OBJECTIVE To characterize the molecular and clinical phenotypic basis of developmental and epileptic encephalopathies caused by rare biallelic variants in CACNA2D2. METHODS 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 identified… CONTINUE READING


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