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.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
de Vries B,Haan J,Stam AH,Vanmolkot KR,Stroink H,Laan LA,Gill DS,Pascual J,Frants RR,van den Maagdenberg AM,Ferrari MDdoi
10.1055/s-2006-924609subject
Has Abstractpub_date
2006-10-01 00:00:00pages
302-4issue
5eissn
0174-304Xissn
1439-1899journal_volume
37pub_type
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