|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the severe childhood epilepsy Dravet syndrome (DS).
|
31782251 |
2019 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.
|
31730442 |
2019 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gain of function of sporadic/familial hemiplegic migraine-causing SCN1A mutations: Use of an optimized cDNA.
|
29986598 |
2019 |
|
Familial Hemiplegic Migraine
|
0.100 |
Biomarker
|
disease |
BEFREE |
The familial hemiplegic migraine type 3 (FHM3) is seldom caused by mutations in <i>SCN1A</i>.
|
30498473 |
2018 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Conclusion Like a substantial proportion of other familial hemiplegic migraine type 3 mutations, p.F1499L affects the intracellular linker between domains III and IV of SCN1A, which seems to be a mutational hot-spot.
|
29145747 |
2018 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among these, nine SCN1A gene mutations were reported to cause familial hemiplegic migraine type 3 (FHM3).
|
27919014 |
2017 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
|
26763045 |
2016 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the voltage gated Na(+) channel Na(V)1.1 (SCN1A) are important causes of different genetic epilepsies and can also cause familial hemiplegic migraine (FHM-III).
|
25576396 |
2015 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Only seven SCN1A mutations have been identified in 10 familial hemiplegic migraine (FHM) kindreds worldwide.
|
24646837 |
2014 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two novel SCN1A mutations identified in families with familial hemiplegic migraine.
|
24707016 |
2014 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SCN1A gene are associated with a variety of epilepsy syndromes and more recently with familial hemiplegic migraine.
|
22550089 |
2013 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism.
|
23398611 |
2013 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies in the rare form of familial hemiplegic migraine have identified mutations in 3 genes (CACNA1A, ATP1A2, and SCN1A) encoding proteins involved in ion homeostasis and suggesting that other such genes may be involved in the more common forms of migraine.
|
23030542 |
2012 |
|
Familial Hemiplegic Migraine
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic studies have identified mutations in the CACNA1, ATP1A2 and SCN1A genes in the rare familial hemiplegic migraine.
|
21855646 |
2011 |
|
Familial Hemiplegic Migraine
|
0.100 |
Biomarker
|
disease |
BEFREE |
FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2.
|
19007941 |
2009 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the central nervous system-specific voltage-gated sodium channel alpha1 subunit gene (SCN1A) lead not only to seizure syndromes but also to familial hemiplegic migraine.
|
19139296 |
2009 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report new clinical data supporting cosegregation of familial hemiplegic migraine and the new eye phenotype of elicited repetitive daily blindness and two novel SCN1A mutations as the underlying genetic defect in two unrelated families.
|
19332696 |
2009 |
|
Familial Hemiplegic Migraine
|
0.100 |
Biomarker
|
disease |
BEFREE |
First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.
|
19220312 |
2009 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Different SCN1A mutations are known to cause a variety of phenotypes, such as generalized epilepsy with febrile seizures plus (GEFS+), Dravet syndrome and familial hemiplegic migraine (FHM).
|
19673951 |
2009 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine (FHM) is genetically heterogeneous with mutations in the CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3) genes.
|
18451712 |
2008 |
|
Familial Hemiplegic Migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel.
|
18632931 |
2008 |
|
Familial Hemiplegic Migraine
|
0.100 |
Biomarker
|
disease |
BEFREE |
Familial hemiplegic migraine type 3 (FHM3) is a severe autosomal dominant migraine disorder caused by mutations in the voltage-gated sodium channel Na(V)1.1 encoded by SCN1A.
|
18621678 |
2008 |
|
Familial Hemiplegic Migraine
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, a third gene, SCN1A, was discovered as a cause of familial hemiplegic migraine (FHM).
|
17508172 |
2007 |
|
Familial Hemiplegic Migraine
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.
|
16054936 |
2005 |