|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis among eight affected individuals from a single large, highly penetrant FHM family was negative in ATP1A4 and ATP1A2 although multiple polymorphisms were identified.
|
12119109 |
2002 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the FHM2 locus refining by linkage analysis on two large Italian families affected by pure FHM.
|
12601705 |
2003 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report a novel ATP1A2 mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases.
|
15174025 |
2004 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
A second gene for FHM was discovered recently: the ATP1A2 gene on chromosome 1q23, coding for the alpha 2 subunit of Na+,K+-ATPase.
|
15534763 |
2004 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
The 2 genes implicated in the genetics of FHM are CACNA1A for FHM1 and ATP1A2 for FHM2.
|
15549578 |
2004 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Twelve familial hemiplegic migraine (FHM) patients (6 with the I1811L mutation in CACNA1A, 3 with M731T mutation in ATP1A2, and 3 without known mutations) and 10 control subjects underwent single-fiber EMG.
|
15557518 |
2004 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The increased number of mutations in the FHM1 (CACNA1A) and the FHM2 (ATP1A2) genes allow studying the relationship between genetic findings in both genes and the clinical features in patients.
|
15907261 |
2005 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the gene encoding the alpha(2) subunit of the Na(+),K(+) ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC).
|
16026932 |
2005 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative.
|
16088919 |
2005 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CACNA1A and ATP1A2 have been found in FHM.
|
16344534 |
2005 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel ATP1A2 mutation in a family with FHM type II.
|
16472340 |
2006 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP1A2 cause familial hemiplegic migraine (FHM) type 2, a rare monogenic form of migraine with aura (MA).
|
16508935 |
2006 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
About 20% of FHM families is linked to chromosome 1q23 (FHM2), and has mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na,K-ATPase.
|
16538223 |
2006 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
Biomarker
|
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes.
|
17397047 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The type 2 FHM (FHM-2) susceptibility locus maps to chromosome 1q23 and mutations in the ATP1A2 gene at this site have recently been implicated.
|
17727731 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Besides the two novel mutations, the data here reported confirm the involvement of ATP1A2 gene in the sporadic form of HM, while the negative results on the other families tested for all genes known in HM strengthen the hypothesis of the existence of at least another locus involved in FHM.
|
17877748 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Epilepsy as part of the phenotype associated with ATP1A2 mutations.
|
18028407 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM).
|
18028407 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We propose that D999H is a novel FHM ATP1A2 mutation.
|
18184292 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
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
|
0.200 |
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
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Crystal structure of the sodium-potassium pump at 2.4 A resolution.
|
19458722 |
2009 |