Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Abstract : 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.
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Annals of Clinical and Translational Neurology, Wiley, 2017, 4 (1), pp.26-35. 〈www.wiley.com〉. 〈10.1002/acn3.372〉
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01549065
Contributeur : Gad - Université de Bourgogne <>
Soumis le : mercredi 28 juin 2017 - 14:19:17
Dernière modification le : lundi 16 juillet 2018 - 18:36:03

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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, Wiley, 2017, 4 (1), pp.26-35. 〈www.wiley.com〉. 〈10.1002/acn3.372〉. 〈hal-01549065〉

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