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1.
Cephalalgia ; 29(3): 308-13, 2009 Mar.
Article in English | MEDLINE | ID: mdl-19220312

ABSTRACT

Almost all mutations in the SCN1A gene, encoding the alpha(1) subunit of neuronal voltage-gated Na(V)1.1 sodium channels, are associated with severe childhood epilepsy. Recently, two mutations were identified in patients with pure familial hemiplegic migraine (FHM). Here, we identified a novel SCN1A L263V mutation in a Portuguese family with partly co-segregating hemiplegic migraine and epilepsy. The L263V mutation segregated in five FHM patients, three of whom also had epileptic attacks, occurring independently from their hemiplegic migraine attacks. L263V is the first SCN1A mutation associated with FHM and co-occurring epilepsy in multiple mutation carriers, and is the clearest molecular link between migraine and epilepsy thus far. The results extend the clinical spectrum associated with SCN1A mutations and further strengthen the molecular evidence that FHM and epilepsy share, at least in part, similar molecular pathways.


Subject(s)
Epilepsy/complications , Epilepsy/genetics , Migraine with Aura/complications , Migraine with Aura/genetics , Nerve Tissue Proteins/genetics , Sodium Channels/genetics , Adolescent , Adult , Age of Onset , Amino Acid Sequence , Animals , Child , Female , Haplotypes , Humans , Male , Middle Aged , Mutation , NAV1.1 Voltage-Gated Sodium Channel , Pedigree , Polymerase Chain Reaction , Sequence Homology, Amino Acid
2.
Clin Genet ; 73(1): 37-43, 2008 Jan.
Article in English | MEDLINE | ID: mdl-18028456

ABSTRACT

Mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na+,K+-ATPase, are associated with familial hemiplegic migraine type 2. The majority of ATP1A2 mutations were reported in patients with hemiplegic migraine without any additional neurological findings. Here, we report on two novel ATP1A2 mutations that were identified in two Portuguese probands with hemiplegic migraine and interesting additional clinical features. The proband's of family 1 (with a V362E mutation) had mood alterations, classified as a borderline personality. The proband in family 2 (with a P796S mutation) had mild mental impairment, in addition to hemiplegic migraine; more severe mental retardation was observed in his brother, who also had hemiplegic migraine and carried the same mutation. Cell-survival assays clearly showed abnormal functioning of mutant Na+,K+-ATPase, indicating that both ATP1A2 mutants are disease causing. Additionally, our results suggest a possible causal relationship of the ATP1A2 mutations with the complex clinical phenotypes observed in the probands.


Subject(s)
Intellectual Disability/genetics , Migraine with Aura/genetics , Mood Disorders/genetics , Mutation, Missense , Sodium-Potassium-Exchanging ATPase/genetics , Adolescent , Adult , Family Health , Humans , Male , Pedigree , Phenotype , Portugal
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