title: Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).
abstract: 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 the facilitative glucose transporter-1 (GLUT1) was recently described in a child fulfilling the existing criteria for the diagnosis of AHC, with the exception of age at onset, thus suggesting a clinical overlap between AHC and GLUT1 deficiency syndrome due to SLC2A1 mutations. We have studied a cohort of 23 patients to investigate whether patients with classical AHC harbor SLC2A1 mutations. Automated Sanger sequencing and MLPA analyses failed to detect any SLC2A1 mutations in the 23 patients analyzed, thus excluding mutations of this gene as a frequent cause of classical AHC.
authors: Assistance Publique-Hôpitaux de Paris, Biochimie, Hôpital Bichat-Claude Bernard, Paris, France.
authors: S
authors: S
authors: Vuillaumier-Barrot
authors: E
authors: E
authors: Panagiotakaki
authors: C
authors: C
authors: Le Bizec
authors: C
authors: C
authors: El Baba
authors: B
authors: B
authors: Fontaine
authors: A
authors: A
authors: Arzimanoglou
authors: N
authors: N
authors: Seta
authors: S
authors: S
authors: Nicole
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006429:Hemiplegia / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human