Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paro...

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Detalles Bibliográficos
Autores principales: Yeşil, Gözde, Aralaşmak, Ayşe, Akyüz, Enes, İçağasıoğlu, Dilara, Uygur Şahin, Türkan, Bayram, Yavuz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060973/
https://www.ncbi.nlm.nih.gov/pubmed/29545233
http://dx.doi.org/10.4274/balkanmedj.2017.0986

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060973/
https://www.ncbi.nlm.nih.gov/pubmed/29545233
http://dx.doi.org/10.4274/balkanmedj.2017.0986

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