Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation.
We studied four members of a family suffering from typical attacks of familial hemiplegic migraine (FHM) caused by a new mutation, R548C, of ATP1A2 gene in exon 12. One individual had also childhood absence epilepsy and generalized tonic-clonic seizures (GTCS). GTCS were followed by a severe attack of hemiplegic migraine at four times. Sodium valproate enabled control of both the epileptic seizures and the most severe FHM attacks. This association of FHM and epileptic seizures and their control with the same treatment suggest similar pathophysiological mechanisms.
Lebas
A
A
Departments of Paediatrics, Rouen University Hospital, Rouen, France. axel.lebas@gmail.com
Guyant-Maréchal
L
L
Hannequin
D
D
Riant
F
F
Tournier-Lasserve
E
E
Parain
D
D
D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000235:genetics*; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D020325:Migraine with Aura / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase