Article
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).
Neuropediatrics - 1 Dec 2010
Vuillaumier-Barrot S, Panagiotakaki E, Le Bizec C, El Baba C, Fontaine B, Arzimanoglou A, Seta N, Nicole S
Abstract excerpt
Alternating hemiplegia of childhood (AHC) is a rare neuropediatric disorder classically characterized by episodes of hemiplegia developing in the first months of life, various non-epileptic paroxysmal events and global neurological impairment. If the etiology is unresolved, the disorder is highly suspected to be monogenic with DE NOVO autosomal dominant mutations. A missense mutation in the SLC2A1 gene encoding...
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