title: Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1.
abstract: Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. Clinically and genetically, there is some overlap with sporadic (SHM) and familial (FHM) hemiplegic migraine, a severe monogenic subtype of migraine. Although no mutations were detected in the FHM1 CACNA1A and FHM2 ATP1A2 genes in sporadic AHC patients, a mutation was found in the FHM2 ATP1A2 gene in a family with AHC. Recently, a missense mutation was found in the SLC1A3 gene that encodes the glutamate transporter EAAT1, in a patient with alternating hemiplegia, episodic ataxia, seizures, and headache. Because of the remarkable clinical similarities and the potential role of glutamate in AHC, we analysed six sporadic patients with AHC for mutations in the SLC1A3 gene. No mutations were found. The SLC1A3 EAAT1 glutamate transporter gene does not seem to be involved in the pathogenesis of AHC.
authors.affiliation: Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: B
authors.initials: B
authors.lastname: de Vries
authors.forename: J
authors.initials: J
authors.lastname: Haan
authors.forename: A H
authors.initials: AH
authors.lastname: Stam
authors.forename: K R J
authors.initials: KR
authors.lastname: Vanmolkot
authors.forename: H
authors.initials: H
authors.lastname: Stroink
authors.forename: L A E M
authors.initials: LA
authors.lastname: Laan
authors.forename: D S
authors.initials: DS
authors.lastname: Gill
authors.forename: J
authors.initials: J
authors.lastname: Pascual
authors.forename: R R
authors.initials: RR
authors.lastname: Frants
authors.forename: A M J M
authors.initials: AM
authors.lastname: van den Maagdenberg
authors.forename: M D
authors.initials: MD
authors.lastname: Ferrari
mesh_terms: D000293:Adolescent; D002648:Child; D004252:DNA Mutational Analysis; D027341:Excitatory Amino Acid Transporter 1 / Q000235:genetics*; D005260:Female; D006429:Hemiplegia / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D027341:Excitatory Amino Acid Transporter 1; C493394:SLC1A3 protein, human