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

Epilepsia

Volumn 50, Issue 11, 2009, Pages 2503-2504

  De Vries, Boukje ^a   Stam, Anine H ^a   Kirkpatrick, Martin ^b   Vanmolkot, Kaate R J ^a   Koenderink, Jan B ^c   Van Den Heuvel, Jeroen J M W ^c   Stunnenberg, Bas ^c   Goudie, David ^b   Shetty, Jay ^b   Jain, Vivek ^b   Van Vark, Judith ^a   Terwindt, Gisela M ^a   Frants, Rune R ^a   Haan, Joost ^a,d   Van Den Maagdenberg, Arn M J M ^a   Ferrari, Michel D ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NHS TAYSIDE   (United Kingdom)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RIJNLAND HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLYCINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ATAXIA; ATP1A2 GENE; CASE REPORT; DISEASE ASSOCIATION; FAMILIAL HEMIPLEGIC MIGRAINE; FEBRILE CONVULSION; GENE; GENE MUTATION; GENETIC CONSERVATION; HUMAN; LETTER; MALE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; COMORBIDITY; DNA MUTATIONAL ANALYSIS; EPILEPSY; FAMILY; FEMALE; HEMIPLEGIA; HUMANS; MALE; MIGRAINE DISORDERS; MIGRAINE WITH AURA; MUTATION; SEIZURES, FEBRILE; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 70350350302     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2009.02186.x     Document Type: Letter

References (7)

1. De Fusco M, Marconi R, Silverstri L, Atorin L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G 2003) Haploid insufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33 : 192 196.
2. Deprez L, Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P 2008) Epilepsy as part of the phenotype associated with ATP1A2 mutations. Epilepsia 49 : 500 508.
3. Fernandez DM, Hand CK, Sweeney BJ, Parfrey NA 2008) A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred. Headache 48 : 101 108.
4. Headache Classification Committee of the International Headache Society 2004) The international classification of headache disorders, 2nd edition. Cephalalgia 24 : 1 160.
5. Leviton A, Cowan LD 1982) Epidemiology of seizure disorders in children. Neuroepidemiology 1 : 40 83.
6. Vanmolkot KRJ, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, Van den Maagdenberg AMJM 2003) Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 54 : 360 366.
7. Vanmolkot KR, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LA, Kia SK, van den Heuvel JJ, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, van den Maagdenberg AM 2006) Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine. Eur J Hum Genet 14 : 555 560.