A novel mutation in the ATP1A2 genes causes alternating hemiplegia of childhood

Journal of Medical Genetics

Volumn 41, Issue 8, 2004, Pages 621-628

  Bassi, M T ^a   Bresolin, N ^a,b   Tonelli, A ^a   Nazos, K ^b   Crippa, F ^a   Baschirotto, C ^a   Zucca, C ^a   Bersano, A ^b   Dolcetta, D ^c   Boneschi, F M ^c   Barone, V ^c   Casari, G ^c  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; CHILDHOOD; CHILDHOOD DISEASE; DNA EXTRACTION; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEMIPLEGIA; HUMAN; KARYOTYPE; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HEMIPLEGIA; HUMANS; MALE; MUTATION, MISSENSE; NA(+)-K(+)-EXCHANGING ATPASE; PEDIGREE;

EID: 4043048702     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Verret S, Steele JC. Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. Pediatrics 1971;47:675-80.
2. Rho JM, Chugani HT. Alternating hemiplegia of childhood: insights into its pathophysiology. J Child Neurol 1998;13(1):39-45.
3. Aicardi J, Bourgeois M, Goutieres F. Alternating hemiplegia of childhood: clinical findings and diagnostic. In: Anderman F, Aicardi J, Vigevano F, eds. Alternating hemiplegia of childhood. New York: Raven Press, 1995:3-18.
4. Mikati MA, Kramer U, Zupanc ML, Shanahan RJ. Alternating hemiplegia of childhood: clinical manifestations and long term outcome. Pediatr Neurol 2000;23(1):134-41.
5. Silver K, Andermann F. Alternating hemiplegia of childhood: the natural history of the disorder in a group of 10 patients. In: Anderman F, Aicardi J, Vigevano F, eds. Alternating hemiplegia of childhood. New York: Raven Press, 1995:19-28.
6. Olesen J. Classification and diagnostic criteria for headache disorders. Cephalalgia 1988;8(suppl 7):26.
7. Bourgeois M, Aicardi J, Goutieres F. Alternating hemiplegia of childhood. J Peadiatr 1993;122(5 Pt 1):673-9.
8. Mikati MA, Maguire H, Barlow CF, Ozelius L, Breakefield XO, Klauck SM, Korf B, O'Tuama SL, Dangond F. A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. Neurology 1992;42(12):2251-7.
9. Kramer U, Nevo Y, Margalit D, Shorer Z, Harel S. Alternating hemiplegia of childhood in half sisters. J Child Neurol 2000;15(2):128-30.
10. Arnold DL, Silver K, Andermann F. Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood. Ann Neurol 1993;33(6):604-7.
11. De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 2003;33(2):192-6.
12. Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 2003;54(3):360-0.
13. Marconi M, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S, Ballabio A, Morgante L, Musolino R, Epifanio A, Micieli G, De Michele G, Casari G. Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. Ann Neurol 2003;53:376-81.
14. Hu YK, Kaplan JH. Site-directed chemical labeling of extracellular loops in a membrane protein. The topology of the Na,K-ATPase α subunit. J Biol Chem 2000;275:19185-91.
15. Saito Y, Sakuragawa N, Sasaki M, Sugai K, Hashimoto T. A case of alternating hemiplegia of childhood with cerebellar atrophy. Pediatr Neurol 1998;19(1):65-8.
16. 3H]ouabain binding to the Na+, K(+)-ATPase without altering the cation binding properties of the enzyme. J Biol Chem 1995;270(27):16206-12.
17. Pedersen PA, Rasmussen JH, Jorgensen PL. Consequences of mutations to the phosphorylation site of the alpha-subunit of Na, K-ATPase for ATP binding and E1-E2 conformational equilibrium. Biochemistry 1996;35(50):16085-93.
18. 2+ pump, cause Darier disease. Nat Genet 1999;21(3):271-7.
19. + pump low and high ouabain affinity alpha subunit isoforms are differently distributed in cells. Proc Natl Acad Sci U S A 1997;94(5):1800-5.
20. Lance JW. Is alternating hemiplegia of childhood (AHC) a variant of migraine? Cephalalgia 2000;20(8):685.