Migraine, familial hemiplegic, 3; FHM3

Disease ID:628
Name:Migraine, familial hemiplegic, 3; FHM3
Associated with:1 target
Synonyms
Familial hemiplegic migraine | Familial or sporadic hemiplegic migraine
Database Links
Disease Ontology: DOID:0060178
OMIM: 609634
Orphanet: ORPHA569

Targets

Nav1.1
References:  3
Mutations:  Nav1.1 is associated with 8 mutation. Click here for details

Ligands

No ligand related data available for Migraine, familial hemiplegic, 3; FHM3

References

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1. Barros J, Ferreira A, Brandão AF, Lemos C, Correia F, Damásio J, Tuna A, Sequeiros J, Coutinho P, Alonso I et al.. (2014) Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley. Cephalalgia, 34 (12): 1015-20. [PMID:24646837]

2. Cestèle S, Labate A, Rusconi R, Tarantino P, Mumoli L, Franceschetti S, Annesi G, Mantegazza M, Gambardella A. (2013) Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine. Epilepsia, 54 (5): 927-35. [PMID:23398611]

3. Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M et al.. (2005) Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet, 366 (9483): 371-7. [PMID:16054936]

4. Gargus JJ, Tournay A. (2007) Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatr. Neurol., 37 (6): 407-10. [PMID:18021921]

5. Le Fort D, Safran AB, Picard F, Bouchardy I, Morris MA. (2004) Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy. Neurology, 63 (2): 348-50. [PMID:15277634]

6. Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, Trouillard O, Gaudric A, Morris MA, Leguern E, Tournier-Lasserve E et al.. (2009) Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology, 72 (13): 1178-83. [PMID:19332696]

7. Weller CM, Pelzer N, de Vries B, López MA, De Fàbregues O, Pascual J, Arroyo MA, Koelewijn SC, Stam AH, Haan J et al.. (2014) Two novel SCN1A mutations identified in families with familial hemiplegic migraine. Cephalalgia, 34 (13): 1062-9. [PMID:24707016]