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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Clin Transl Neurol
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2019
Gaiak:
Research Articles
Sarrera elektronikoa: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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