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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Publicado en:Ann Clin Transl Neurol
Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea: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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