|
Hemiplegic migraine, familial type 1
|
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 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among these, SCN1A encodes the voltage-gated Na<sup>+</sup> channel Nav1.1, and FHM caused by mutations of SCN1A is named FHM3.
|
31730442 |
2019 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Method The clinical manifestations of a Chinese FHM family were recorded and all coding exons and flanking intronic regions of the CACNA1A, ATP1A2, and SCN1A genes were tested for mutations.
|
27919014 |
2017 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder.
|
28593511 |
2017 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence of SCN1A mutations and absence of mutations in ATP1A2 or CACNA1A suggest that the Polish patients represent FHM type 3.
|
26747084 |
2016 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Results and conclusions We identified a novel SCN1A (p.Leu1624Pro) mutation in a pure FHM family with notably early-onset attacks at mean age of 7.
|
26763045 |
2016 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 2009, we presented a kindred with FHM due to the L263V SCN1A mutation.
|
24646837 |
2014 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the ion transportation coding genes CACNA1A , ATP1A2 and SCN1A are responsible for the FHM phenotype.
|
23918834 |
2014 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SCN1A mutations are an infrequent but important cause of FHM.
|
24707016 |
2014 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations causing FHM type 3 have been identified in SCN1A, the gene encoding the Nav1.1 Na(+) channel, which is also a major target of epileptogenic mutations and is particularly important for the excitability of GABAergic neurons.
|
24101488 |
2013 |
|
Hemiplegic migraine, familial type 1
|
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 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in three different genes have been implicated in familial hemiplegic migraine (FHM), two of them code for neuronal voltage-gated cation channels, CACNA1A and SCN1A, while the third encodes ATP1A2, the alpha(2)-isoform of the Na(+)/K(+)-ATPase's catalytic subunit, thus classifying FHM as an ion channel/ion transporter disorder.
|
19372756 |
2009 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
CACNA1A (FHM1) gene, the ATP1A2 (FHM2) and the SCN1A (FHM3) are reported for their correlation to FHM.
|
19007941 |
2009 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine (FHM) is a genetically heterogeneous disorder in which three genes, CACNA1A, ATP1A2, and SCN1A, are currently known to be involved.
|
19332696 |
2009 |
|
Hemiplegic migraine, familial type 1
|
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 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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.
|
19220312 |
2009 |
|
Hemiplegic migraine, familial type 1
|
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 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations causing FHM (type 3) have been identified in SCN1A, the gene encoding neuronal voltage-gated Na(v)1.1 Na(+) channel alpha subunit, but functional studies have been done using the cardiac Na(v)1.5 isoform, and the observed effects were similar to those of some epileptogenic mutations.
|
18632931 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage analysis of these families shows clear linkage to the FHM locus (FHM1) on chromosome 19, supportive linkage to the FHM2 locus whereas no linkage was found to the FHM3 locus.
|
17142831 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a North American kindred with FHM without associated ataxia or epilepsy.
|
17397047 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FHM mutations so far identified include those in CACNA1A (P/Q voltage-gated Ca(2+) channel), ATP1A2 (N(+)-K(+)-ATPase) and SCN1A (Na(+) channel) genes.
|
17141570 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families.
|
17119788 |
2006 |