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Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine

Journal of human genetics, 2007-12, Vol.52 (12), p.990-998

2007

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Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

Annals of neurology, 2003-09, Vol.54 (3), p.360-366

2003

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The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

Human mutation, 2007-05, Vol.28 (5), p.522-522

2007

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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

American journal of human genetics, 2001-09, Vol.69 (3), p.481-492

2001

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The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online

Human mutation, 2007-05, Vol.28 (5), p.522

2007

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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Human molecular genetics, 2001-02, Vol.10 (3), p.221-229

2001

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Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families

Arquivos de neuro-psiquiatria, 2006-09, Vol.64 (3A), p.549-552

2006

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Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

Human molecular genetics, 2002-04, Vol.11 (7), p.799-804

2002

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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Human molecular genetics, 2001-02, Vol.10 (3), p.221-229

2001

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Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

Epilepsia (Copenhagen), 2009-11, Vol.50 (11), p.2503-2504

2009

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Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.555-560

2006

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Recent findings in headache genetics

Current opinion in neurology, 2004-06, Vol.17 (3), p.283-288

2004

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First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine

European journal of human genetics : EJHG, 2007-08, Vol.15 (8), p.884-888

2007

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The Phe-124-Cys and A-161T Variants of the Human 5-HT1B Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan

Headache, 2007-05, Vol.47 (5), p.711-716

2007

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Migraine genetics: an update

Current pain and headache reports, 2005-06, Vol.9 (3), p.213-220

2005

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Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake

Archives of neurology (Chicago), 2009-01, Vol.66 (1), p.97

2009

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Familial Hemiplegic Migraine Presenting as Recurrent Encephalopathy in a Native Indian Family

Headache, 2005-10, Vol.45 (9), p.1244-1249

2005

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New discoveries about the second gene for familial hemiplegic migraine, ATP1A2

Lancet neurology, 2003-12, Vol.2 (12), p.721-721

2003

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Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

Recent findings in headache genetics

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine

The Phe-124-Cys and A-161T Variants of the Human 5-HT1B Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan

Migraine genetics: an update

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake

Familial Hemiplegic Migraine Presenting as Recurrent Encephalopathy in a Native Indian Family

New discoveries about the second gene for familial hemiplegic migraine, ATP1A2

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