Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

OBJECTIVE: To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐phenotype‐physiological correlations. METHODS: Ten case...

Descripción completa

Detalles Bibliográficos
Autores principales: Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649578/
https://www.ncbi.nlm.nih.gov/pubmed/31353855
http://dx.doi.org/10.1002/acn3.50822

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649578/
https://www.ncbi.nlm.nih.gov/pubmed/31353855
http://dx.doi.org/10.1002/acn3.50822

Ejemplares similares