Clinical and genetic analysis in alternating hemiplegia of childhood: Ten new patients from Southern Europe

Journal of the Neurological Sciences

Volumn 344, Issue 1-2, 2014, Pages 37-42

  Vila Pueyo, Marta ^a   Pons, Roser ^b   Raspall Chaure, Miquel ^a   Marcé Grau, Anna ^a   Carreño, Oriel ^c,d   Sintas, Cèlia ^c,d   Cormand, Bru ^c,d   Pineda Marfà, Mercè ^e   Macaya, Alfons ^a  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b UNIVERSITY OF ATHENS   (Greece)

^c UNIVERSITY OF BARCELONA   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e CENTRO MÉDICO TEKNON   (Spain)

Author keywords

Alternating hemiplegia of childhood; ATP1A3; CACNA1A; Genetics; Ketogenic diet; Neurodevelopmental syndrome

Indexed keywords

ADOLESCENT; ADULT; ALTERNATING HEMIPLEGIA OF CHILDHOOD; ARTICLE; ATP1A2 GENE; ATP1A3 GENE; CACNA1A GENE; CHILD; CLINICAL ARTICLE; COPY NUMBER VARIATION; DISEASE SEVERITY; FAMILIAL HEMIPLEGIC MIGRAINE; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GREECE; HETEROZYGOTE; HUMAN; KETOGENIC DIET; MALE; MISSENSE MUTATION; NEUROLOGIC DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCN1A GENE; SLC2A1 GENE; SOUTHERN EUROPE; SPAIN; TREATMENT RESPONSE; CHEMICAL STRUCTURE; DIET THERAPY; EPIDEMIOLOGY; EUROPE; GENETICS; HEMIPLEGIA; NUCLEOTIDE SEQUENCE; PROCEDURES;

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ATP1A3 PROTEIN, HUMAN;

ADOLESCENT; CHILD; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; EUROPE; FEMALE; GREECE; HEMIPLEGIA; HUMANS; KETOGENIC DIET; MALE; MODELS, MOLECULAR; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 84906793980     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2014.06.014     Document Type: Article

References (25)

1. S. Verret, and J.C. Steele Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy Pediatrics 47 4 Apr 1971 675 680
2. M. Bourgeois, J. Aicardi, and F. Goutieres Alternating hemiplegia of childhood J Pediatr 122 5 Pt 1 May 1993 673 679
3. J. Guevara-Campos, L. Gonzalez-de Guevara, J. Urbaez-Cano, R. Tinedo, M. Villamizar, and L. Rojas Alternating hemiplegia of childhood treated as epilepsy. Two new cases Rev Neurol 40 6 Mar 16-31 2005 351 353
4. H. Rosewich, H. Thiele, A. Ohlenbusch, U. Maschke, J. Altmuller, and P. Frommolt et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study Lancet Neurol 11 9 Sep 2012 764 773
5. E.L. Heinzen, K.J. Swoboda, Y. Hitomi, F. Gurrieri, S. Nicole, and B. de Vries et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Nat Genet 44 9 Sep 2012 1030 1034
6. A. Ishii, Y. Saito, J. Mitsui, H. Ishiura, J. Yoshimura, and H. Arai et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients PLoS One 8 2 2013 e56120
7. C.E. Hoei-Hansen, C.I. Dali, T.J. Lyngbye, M. Duno, and P. Uldall Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status Eur J Paediatr Neurol 18 1 Jan 2004 50 54
8. M. Sasaki, A. Ishii, Y. Saito, N. Morisada, K. Iijima, and S. Takada et al. Genotype-phenotype correlations in alternating hemiplegia of childhood Neurology 82 6 Feb 2014 482 490
9. B. de Vries, A.H. Stam, F. Beker, A.M. van den Maagdenberg, K.R. Vanmolkot, and L. Laan et al. CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood Cephalalgia 28 8 Aug 2008 887 891
10. M.T. Bassi, N. Bresolin, A. Tonelli, K. Nazos, F. Crippa, and C. Baschirotto et al. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood J Med Genet 41 8 Aug 2004 621 628
11. K.J. Swoboda, E. Kanavakis, A. Xaidara, J.E. Johnson, M.F. Leppert, and M.B. Schlesinger-Massart et al. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation Ann Neurol 55 6 Jun 2004 884 887
12. M. Rotstein, J. Doran, H. Yang, P.M. Ullner, K. Engelstad, and D.C. De Vivo Glut1 deficiency and alternating hemiplegia of childhood Neurology 73 23 Dec 8 2009 2042 2044
13. S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 16 3 Feb 11 1988 1215
14. Aguiar P. de Carvalho, K.J. Sweadner, J.T. Penniston, J. Zaremba, L. Liu, and M. Caton et al. Mutations in the Na +/K +-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism Neuron 43 2 Jul 22 2004 169 175
15. H. Rosewich, A. Ohlenbusch, P. Huppke, L. Schlotawa, M. Baethmann, and I. Carrilho et al. The expanding clinical and genetic spectrum of ATP1A3-related disorders Neurology 82 11 Mar 2014 945 955
16. J.C. Jen, J. Wan, T.P. Palos, B.D. Howard, and R.W. Baloh Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures Neurology 65 4 Aug 23 2005 529 534
17. O. Carreno, M.T. Garcia-Silva, O. Garcia-Campos, A. Martinez-de Aragon, B. Cormand, and A. Macaya Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation Headache 51 10 Nov-Dec 2011 1542 1546
18. E. De Grandis, M. Stagnaro, R. Biancheri, M. Giannotta, G. Gobbi, and M. Traverso et al. Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood J Child Neurol 28 7 Jul 2013 863 866
19. R.A. Ophoff, G.M. Terwindt, M.N. Vergouwe, R. van Eijk, P.J. Oefner, and S.M. Hoffman et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2 + channel gene CACNL1A4 Cell 87 3 Nov 1 1996 543 552
20. F. Cricchi, C. Di Lorenzo, G.S. Grieco, C. Rengo, A. Cardinale, and M. Racaniello et al. Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop J Neurol Sci 254 1-2 Mar 15 2007 69 71
21. S.A. Serra, E. Cuenca-Leon, A. Llobet, F. Rubio-Moscardo, C. Plata, and O. Carreno et al. A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis Proc Natl Acad Sci U S A 107 4 Jan 26 2009 1672 1677
22. J.H. Kim, I. Sizov, M. Dobretsov, and H. von Gersdorff Presynaptic Ca2 + buffers control the strength of a fast post-tetanic hyperpolarization mediated by the alpha3 Na(+)/K(+)-ATPase Nat Neurosci 10 2 Feb 2007 196 205
23. A. Ullate-Campos, C. Fons, R. Artuch, E. Castejón, L. Martorell, and L. Ozelius et al. Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet Pediatr Neurol 50 4 Apr 2014 377 379
24. A. Roubergue, E. Roze, S. Vuillaumier-Barrot, M.J. Fontenille, A. Méneret, and M. Vidailhet et al. The multiple faces of the ATP1A3-related dystonic movement disorder Mov Disord 28 10 Sep 2013 1457 1459
25. M. Sasaki, H. Sakuma, A. Fukushima, K. Yamada, T. Ohnishi, and H. Matsuda Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood Brain Dev 31 1 Jan 2009 20 26