Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

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 exom...

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Bibliografske podrobnosti
izdano v:Ann Clin Transl Neurol
Main Authors: Punetha, Jaya, Karaca, Ender, Gezdirici, Alper, Lamont, Ryan E., Pehlivan, Davut, Marafi, Dana, Appendino, Juan P., Hunter, Jill V., Akdemir, Zeynep C., Fatih, Jawid M., Jhangiani, Shalini N., Gibbs, Richard A., Innes, A. Micheil, Posey, Jennifer E., Lupski, James R.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Research Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6689679/
https://ncbi.nlm.nih.gov/pubmed/31402629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50824
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