KEGG   DISEASE: H00775Help
Entry
H00775                      Disease                                

Name
Familial or sporadic hemiplegic migraine
Description
Sporadic and familial hemiplegic migraines (SHM and FHM) are rare paroxysmal disorders characterized by motor aura and headache. The distinction is based on whether at least one first or second degree relative is also affected, otherwise the diagnostic criteria are similar. The majority of FHM families have a mutation in one of the ion channels CACNA1A, ATP1A2 and SCN1A. SHM is sometimes caused by a de novo mutation in one of the genes. However, at least a quarter of the large families affected and most sporadic cases do not have a mutation in the three genes known to be implicated in this disorder, suggesting that other genes are still to be identified.
Category
Nervous system disease
BRITE hierarchy
Pathway
MAPK signaling pathway
Calcium signaling pathway
Cardiac muscle contraction
Synaptic vesicle cycle
Glutamatergic synapse
Cholinergic synapse
GABAergic synapse
Dopaminergic synapse
Long-term depression
Gene
(FHM1, SHM1) CACNA1A [HSA:773] [KO:K04344]
(FHM2, SHM2) ATP1A2 [HSA:477] [KO:K01539]
(FHM3) SCN1A [HSA:6323] [KO:K04833]
Drug
Lamotrigine [DR:D00354]
Acetazolamide [DG:DG01134]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21458376 (description, gene, drug)
  Authors
Russell MB, Ducros A
  Title
Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management.
  Journal
Lancet Neurol 10:457-70 (2011)
Reference
PMID:20187861 (description, gene)
  Authors
Russell MB
  Title
Management of sporadic and familial hemiplegic migraine.
  Journal
Expert Rev Neurother 10:381-7 (2010)

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