Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonata...

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Detalles Bibliográficos
Autores principales: Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5221474/
https://www.ncbi.nlm.nih.gov/pubmed/28078312
http://dx.doi.org/10.1002/acn3.372

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5221474/
https://www.ncbi.nlm.nih.gov/pubmed/28078312
http://dx.doi.org/10.1002/acn3.372

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