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Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
- Source :
- Annals of Clinical and Translational Neurology, Annals of Clinical and Translational Neurology, Wiley, 2017, 4 (1), pp.26-35. 〈www.wiley.com〉. 〈10.1002/acn3.372〉, www.wiley.com
- Publication Year :
- 2017
- Publisher :
- HAL CCSD, 2017.
-
Abstract
- International audience; 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.
Details
- Language :
- English
- ISSN :
- 23289503
- Database :
- OpenAIRE
- Journal :
- Annals of Clinical and Translational Neurology, Annals of Clinical and Translational Neurology, Wiley, 2017, 4 (1), pp.26-35. 〈www.wiley.com〉. 〈10.1002/acn3.372〉, www.wiley.com
- Accession number :
- edsair.dedup.wf.001..b101ba206a6bca7a2d5bf5b1848f62f4
- Full Text :
- https://doi.org/10.1002/acn3.372〉