Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0018681 (
headache
)
56,091
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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
.
...
PMID:Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. 1723 10
