Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders

OBJECTIVE: CDKL5-related disorders (CDD) is an epileptic encephalopathy resulted of gene mutations of CDKL5. This study aimed to explore the development process of CDD and to expand its mutation spectrum. METHODS: Clinic datawas collected about three infantile epileptic encephalopathy cases diagnose...

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Detalles Bibliográficos
Autores principales: Yan, Yumei, He, Dake, Wu, Jing, Hou, Ruolin, Sun, Kun, Li, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048148/
https://www.ncbi.nlm.nih.gov/pubmed/32111237
http://dx.doi.org/10.1186/s13052-020-0775-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048148/
https://www.ncbi.nlm.nih.gov/pubmed/32111237
http://dx.doi.org/10.1186/s13052-020-0775-y

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