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Article Dans Une Revue Annals of Clinical and Translational Neurology Année : 2017

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

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Résumé

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 neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation.

Dates et versions

hal-01549065 , version 1 (28-06-2017)

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Citer

Kambouris Marios, Julien Thevenon, Allison Cox, Alice Masurel-Paulet, Judith Saint-Onge, et al.. Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Annals of Clinical and Translational Neurology, 2017, 4 (1), pp.26-35. ⟨10.1002/acn3.372⟩. ⟨hal-01549065⟩

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