KEGG   DISEASE: Familial or sporadic hemiplegic migraineHelp
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
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00775  Familial or sporadic hemiplegic migraine
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G40-G47  Episodic and paroxysmal disorders
   G43  Migraine
    H00775  Familial or sporadic hemiplegic migraine
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04260  Cardiac muscle contraction
hsa04721  Synaptic vesicle cycle
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04730  Long-term depression
Gene
(FHM1, SHM1) CACNA1A [HSA:773] [KO:K04344]
(FHM2, SHM2) ATP1A2 [HSA:477] [KO:K01539]
(FHM3) SCN1A [HSA:6323] [KO:K04833]
Other DBs
ICD-10: G43.1
MeSH: D020325
OMIM: 141500 602481 609634
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)
DOI:10.1016/S1474-4422(11)70048-5
Reference
PMID:20187861 (description, gene)
  Authors
Russell MB
  Title
Management of sporadic and familial hemiplegic migraine.
  Journal
Expert Rev Neurother 10:381-7 (2010)
DOI:10.1586/ern.09.127

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