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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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2016
Fag:
Research Papers
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5221474/
https://ncbi.nlm.nih.gov/pubmed/28078312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.372
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