De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affe...

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Detalles Bibliográficos
Autores principales: Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794876/
https://www.ncbi.nlm.nih.gov/pubmed/27550844
http://dx.doi.org/10.1038/mp.2016.135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794876/
https://www.ncbi.nlm.nih.gov/pubmed/27550844
http://dx.doi.org/10.1038/mp.2016.135

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