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Familial or sporadic hemiplegic migraine
4 OMIM references -
4 associated genes
74 connected diseases
9 signs/symptoms
Disease Type of connection
Alternating hemiplegia of childhood
Benign paroxysmal torticollis of infancy
Familial paroxysmal ataxia
Spinocerebellar ataxia type 6
Benign familial infantile seizures
Dravet syndrome
Epilepsy with myoclonic-astatic seizures
Generalized epilepsy with febrile seizures-plus context
Infantile convulsions and choreoathetosis
Lennox-Gastaut syndrome
Malignant migrating partial seizures of infancy
Paroxysmal exertion-induced dyskinesia
Paroxysmal kinesigenic dyskinesia
Paroxysmal non-kinesigenic dyskinesia
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Episodic ataxia type 5
Juvenile myoclonic epilepsy
Romano-Ward syndrome
Cobblestone lissencephaly without muscular or ocular involvement
Congenital fibrosis of extraocular muscles
Polymicrogyria due to TUBB2B mutation
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
CLN11 disease
Carpenter syndrome
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Duchenne muscular dystrophy
Isolated CoQ-cytochrome C reductase deficiency
Postsynaptic congenital myasthenic syndromes
Achondrogenesis type 1A
Acrokeratosis verruciformis of Hopf
Acute inflammatory demyelinating polyradiculoneuropathy
Amyotrophic lateral sclerosis
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant macrothrombocytopenia
Autosomal recessive cutis laxa type 1
Blackfan-Diamond anemia
Catecholaminergic polymorphic ventricular tachycardia
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1E
Darier disease
Dejerine-Sottas syndrome
Dyssegmental dysplasia, Silverman-Handmaker type
Early-onset autosomal dominant Alzheimer disease
Extraskeletal myxoid chondrosarcoma
Familial drusen
Familial isolated dilated cardiomyopathy
Glycogen storage disease due to aldolase A deficiency
Hereditary neuropathy with liability to pressure palsies
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Intellectual deficit - craniofacial dysmorphism - cryptorchidism
Leber congenital amaurosis
Lethal arteriopathy syndrome due to FBLN4 deficiency
Leukoencephalopathy - dystonia - motor neuropathy
Oligodontia
Partial chromosome Y deletion
Pseudohypoaldosteronism type 2E
Rapid-onset dystonia-parkinsonism
Retinitis pigmentosa
Roussy-Lévy syndrome
Schwartz-Jampel syndrome
Severe early-childhood-onset retinal dystrophy
Synpolydactyly type 2
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
X-linked non-syndromic intellectual deficit
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATP1A2 P50993182340
CACNA1A O00555601011
PRRT2 Q7Z6L0614386
SCN1A P35498182389
Very frequent
- Autosomal dominant inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Movement disorder

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Nystagmus

Occasional
- EEG anomalies
- Retinitis pigmentosa / retinal pigmentary changes
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia