Familial or sporadic hemiplegic migraine

A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).



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Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 27651281
 Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?
Camia F, Pisciotta L, Morana G, Schiaffino MC, Renna S, Carrera P, Ferrari M, Baglietto MG, Veneselli E, Siri L, Mancardi MM.
Cephalalgia. 2017;37(12):1202-1206.
Seizure
CACNA1A
Anticonvulsants Brain Edema Calcium Channel Child Drug Eruptions Females Glucocorticoids Homo sapiens Migraine with Aura Missense Mutation Triazines
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0004374 Hemiplegia/hemiparesis Very frequent (99-80%)
HP:0100022 Abnormality of movement Very frequent (99-80%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000580 Pigmentary retinopathy Occasional (29-5%)
HP:0002167 Neurological speech impairment Occasional (29-5%)
HP:0002353 EEG abnormality Occasional (29-5%)
HP:0002357 Dysphasia Occasional (29-5%)
HP:0007703 Abnormality of retinal pigmentation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002448 Progressive encephalopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
SCN1A sodium voltage-gated channel alpha subunit 1 6323
CACNA1A calcium voltage-gated channel subunit alpha1 A 773
ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 477
PRRT2 proline rich transmembrane protein 2 112476