Biallelic variants in the CACNA1A gene resulting in infantile epileptic encephalopathy, global developmental delay and cortical visual impairment

Autor:	A. Maw, V.M.Y. Wong-Spracklen, O. Spasic-Boskovic, K. Baker
Rok vydání:	2017
Předmět:	medicine.medical_specialty business.industry CACNA1A gene Epileptic encephalopathy Pediatrics Perinatology and Child Health Medicine Neurology (clinical) General Medicine Global developmental delay Cortical visual impairment Audiology business medicine.disease
Zdroj:	European Journal of Paediatric Neurology. 21:e59
ISSN:	1090-3798
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::072b32fbfc17d3ac588b2ef043fb2936 https://doi.org/10.1016/j.ejpn.2017.04.917 Zobrazit plný text záznamu Full Text from ScienceDirect