Polskie Stowarzyszenie na Rzecz Osób z AHC  ahc-pl

• Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
  Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.
  PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045.

 

• A functional correlate of severity in alternating hemiplegia of childhood.
  Li M, Jazayeri D, Corry B, McSweeney KM, Heinzen EL, Goldstein DB, Petrou S.
  Neurobiol Dis. 2015 May;77:88-93. doi: 10.1016/j.nbd.2015.02.002. Epub 2015 Feb 12.

 

• CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
  Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB.
  J Child Neurol. 2015 Apr 20. pii: 0883073815579708. [Epub ahead of print]

 

• Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
  Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S.
  Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5.

 

• ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment?
  Wong VC, Kwong AK.
  Brain Dev.2015 Feb 5. pii: S0387-7604(15)00019-4. doi: 10.1016/j.braindev.2015.01.003. [Epub ahead of print]

 

• The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
  Sweney MT, Newcomb TM, Swoboda KJ.
  Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13.

 

• Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization.
  Hunanyan AS, Fainberg NA, Linabarger M, Arehart E, Leonard AS, Adil SM, Helseth AR, Swearingen AK, Forbes SL, Rodriguiz RM, Rhodes T, Yao X, Kibbi N, Hochman DW, Wetsel WC, Hochgeschwender U, Mikati MA.
  Epilepsia. 2015 Jan;56(1):82-93. doi: 10.1111/epi.12878. Epub 2014 Dec 19.

 

• Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.
  Wilcox R, Brænne I, Brüggemann N, Winkler S, Wiegers K, Bertram L, Anderson T, Lohmann K.
  J Neurol. 2015 Jan;262(1):187-93. doi: 10.1007/s00415-014-7547-9. Epub 2014 Oct 31.

 

• Genome-wide screen for modifiers of Na (+) /K (+) ATPase alleles identifies critical genetic loci.
  Talsma AD, Chaves JF, LaMonaca A, Wieczorek ED, Palladino MJ.
  Mol Brain. 2014 Dec 5;7(1):89. doi: 10.1186/s13041-014-0089-3

 

• Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
  Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA.
  Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29.

 

• Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.
  Rosewich H, Weise D, Ohlenbusch A, Gärtner J, Brockmann K.
  Neurology. 2014 Aug 26;83(9):861-3. doi: 10.1212/WNL.0000000000000735. Epub 2014 Jul 23.

 

• Distinct neurological disorders with ATP1A3 mutations.
  Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group.
  Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0.

 

• A novel ATP1A3 mutation with unique clinical presentation.
  Rosewich H, Baethmann M, Ohlenbusch A, Gärtner J, Brockmann K.
  J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.

 

• Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.
  Weigand KM, Messchaert M, Swarts HG, Russel FG, Koenderink JB.
  Biochim Biophys Acta. 2014 Jul;1842(7):1010-6. doi: 10.1016/j.bbadis.2014.03.002. Epub 2014 Mar 12.

 

• Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.
  Weigand KM, Messchaert M, Swarts HG, Russel FG, Koenderink JB.
  Biochim Biophys Acta. 2014 Jul;1842(7):1010-6. doi: 10.1016/j.bbadis.2014.03.002. Epub 2014 Mar 12.

 

• The expanding clinical and genetic spectrum of ATP1A3-related disorders.
  Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K.
  Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12.

 

• Genotype-phenotype correlations in alternating hemiplegia of childhood.
  Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S.
  Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15.

 

• Application of magnetic resonance spectroscopy in patients with alternating hemiplegia of childhood: findings on metabolic dysfunctions.
  Jiang W, Ma L, Du B, Chi Z, Zeng Q, Shan P.
  Neuropediatrics. 2014 Jun;45(3):162-8. doi: 10.1055/s-0033-1363312. Epub 2013 Dec 19.

 

• A novel ATP1A3 mutation with unique clinical presentation.
  Rosewich H, Baethmann M, Ohlenbusch A, Gärtner J, Brockmann K.
  J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.

 

• Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.
  Oblak AL, Hagen MC, Sweadner KJ, Haq I, Whitlow CT, Maldjian JA, Epperson F, Cook JF, Stacy M, Murrell JR, Ozelius LJ, Brashear A, Ghetti B.
  Acta Neuropathol. 2014 May 7. [Epub ahead of print].

 

• Distinct neurological disorders with ATP1A3 mutations.
  Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group.
  Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0

 

• Benign nocturnal alternating hemiplegia of childhood: a new case with unusual findings.
  Mangano S, Fontana A, Spitaleri C, Mangano GR.
  Brain Dev. 2014 May;36(5):408-10. doi: 10.1016/j.braindev.2013.06.004. Epub 2013 Jun 29.

 

• ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients.
  Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, Wei L, Zhang Y.
  PLoS One. 2014 May 19;9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014.

 

• A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood
  Weller CM, Leen WG, Neville BG, Duncan JS, Vries BD, Geilenkirchen MA, Haan J, Kamsteeg EJ, Ferrari MD, Maagdenberg AM, Willemsen MA, Scheffer H, Terwindt GM.
  Cephalalgia. 2014 May 13. pii: 0333102414532379. [Epub ahead of print].

 

• Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.
  Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J.
  Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4.

 

• Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients. [Article in Spanish]
  Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R.
  Med Clin (Barc). 2014 Apr 23. pii: S0025-7753(14)00193-6. doi: 10.1016/j.medcli.2014.01.036. [Epub ahead of print]

 

• The expanding clinical and genetic spectrum of ATP1A3-related disorders.
  Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K.
  Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12.

 

• Alternating hemiplegia of childhood: New diagnostic options.
  Gergont A, Kaciński M.
  Neurol Neurochir Pol.2014 March - April;48(2):130-135. doi: 10.1016/j.pjnns.2013.05.003. Epub 2014 Feb 15.

 

• Genotype-phenotype correlations in alternating hemiplegia of childhood.
  Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S.
  Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15.

 

• ATP1A3 mutations: what is the phenotype?
  Brashear A, Ozelius LJ, Sweadner KJ.
  Neurology. 2014 Feb 11;82(6):468-9. doi: 10.1212/WNL.0000000000000113. Epub 2014 Jan 15.

 

• Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.
  Toustrup-Jensen MS, Einholm AP, Schack VR, Nielsen HN, Holm R, Sobrido MJ, Andersen JP, Clausen T, Vilsen B.
  J Biol Chem. 2014 Feb 7;289(6):3186-97. doi: 10.1074/jbc.M113.543272. Epub 2013 Dec 19.

 

• Attenuation of mania-like behavior in Na(+),K(+)-ATPase α3 mutant mice by prospective therapies for bipolar disorder: melatonin and exercise.
  Kirshenbaum GS, Burgess CR, Déry N, Fahnestock M, Peever JH, Roder JC.
  Neuroscience. 2014 Feb 28;260:195-204. doi: 10.1016/j.neuroscience.2013.12.011. Epub 2013 Dec 14.

 

• Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood.
  Roubergue A, Philibert B, Gautier A, Kuster A, Markowicz K, de Villemeur TB, Vuillaumier-Barrot S, Nicole S, Roze E, Doummar D.
  JIMD Rep. 2014 Feb 16. [Epub ahead of print]

 

• A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
  Demos MK, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM; FORGE Canada Consortium
  Orphanet J Rare Dis. 2014 Jan 28;9:15. doi: 10.1186/1750-1172-9-15.

 

• Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
  Sasaki M, Ishii A, Saito Y, Hirose S.
  Mov Disord. 2014 Jan;29(1):153-4. doi: 10.1002/mds.25659. Epub 2013 Sep 30.

 

• Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.
  Hoei-Hansen CE, Dali CÍ, Lyngbye TJ, Duno M, Uldall P.
  Eur J Paediatr Neurol. 2014 Jan;18(1):50-4. doi: 10.1016/j.ejpn.2013.08.007. Epub 2013 Sep. 25.

 

• Asystole in alternating hemiplegia with de novo ATP1A3 mutation.
  Novy J, McWilliams E, Sisodiya SM
  Eur J Med Genet. 2014 Jan;57(1):37-9. doi: 10.1016/j.ejmg.2013.11.003. Epub 2013 Nov 28.

 

• Zebrafish as a novel model to assess Na+/K(+)-ATPase-related neurological disorders.
  Doğanli C, Oxvig C, Lykke-Hartmann K.
  Neurosci Biobehav Rev. 2013 Dec;37(10 Pt 2):2774-87. doi: 10.1016/j.neubiorev.2013.09.013. Epub 2013 Oct 1.

 

• No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.
  Bizec CL, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot S.
  JIMD Rep. 2014;12:115-20. doi: 10.1007/8904_2013_253. Epub 2013 Sep 4.

 

• Episodic movement disorders: from phenotype to genotype and back.
  Brockmann K.
  Curr Neurol Neurosci Rep. 2013 Oct;13(10):379. doi: 10.1007/s11910-013-0379-7.

 

• Caregiver's burden and psychosocial issues in alternating hemiplegia of childhood.
  Save J, Poncelin D, Auvin S.
  Eur J Paediatr Neurol. 2013 Sep;17(5):515-21. doi: 10.1016/j.ejpn.2013.04.002. Epub 2013 May 11.

 

• The multiple faces of the ATP1A3-related dystonic movement disorder.
  Roubergue A, Roze E, Vuillaumier-Barrot S, Fontenille MJ, Méneret A, Vidailhet M, Fontaine B, Doummar D, Philibert B, Riant F, Nicole S.
  Mov Disord. 2013 Sep;28(10):1457-9. doi: 10.1002/mds.25396. Epub 2013 Mar 8.

 

• Alternating hemiplegia of childhood. The first clinical case reported in El Salvador. [Article in Spanish]
  Ramírez-Zamora M, Ortez-González CI.
  Rev Neurol. 2013 Sep 1;57(5):212-6.

 

• Differential diagnosis of epileptic seizures in infancy including the neonatal period.
  Cross JH.
  Semin Fetal Neonatal Med. 2013 Aug;18(4):192-5. doi: 10.1016/j.siny.2013.04.003. Epub 2013 Apr 30.

 

• Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood.
  De Grandis E, Stagnaro M, Biancheri R, Giannotta M, Gobbi G, Traverso M, Veneselli E, Zara F.
  J Child Neurol. 2013 Jul;28(7):863-6. doi: 10.1177/0883073812452789. Epub 2012 Aug 16.

 

• A case of alternating hemiplegia of childhood effectively treated with goreisan of kampo.[Article in Japanese]
  Oyazato Y, Nakagawa A, Nishiyama A, Adachi M.
  No To Hattatsu. 2013 Jul;45(4):323-5.

 

• Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood.
  Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K.
  J Proteomics. 2013 Jun 28;86:53-69. doi: 10.1016/j.jprot.2013.05.005. Epub 2013 May 13.

 

• Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
  Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
  PLoS One. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120. Epub 2013 Feb 8.

 

• Benign nocturnal alternating hemiplegia: a new case. [Article in French]
  Moutaouakil F, El Otmani H, Fadel H, Slassi I.
  Rev Neurol (Paris). 2013 Feb;169(2):174-5. doi: 10.1016/j.neurol.2012.06.018. Epub 2012 Oct 15.

 

• Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice.
  Kirshenbaum GS, Dawson N, Mullins JG, Johnston TH, Drinkhill MJ, Edwards IJ, Fox SH, Pratt JA, Brotchie JM, Roder JC, Clapcote SJ.
  PLoS One. 2013;8(3):e60141. doi: 10.1371/journal.pone.0060141. Epub 2013 Mar 20.

 

• Alternating hemiplegia of childhood.
  Kansagra S, Mikati MA, Vigevano F.
  Handb Clin Neurol. 2013;112:821-6. doi: 10.1016/B978-0-444-52910-7.00001-5.

 

• Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
  Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
  PLoS One. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120. Epub 2013 Feb 8.

 

• Mutations in ATP1A3 cause alternating hemiplegia of childhood.
  Aminkeng F.
  Clin Genet. 2013 Jan;83(1):32-3. doi: 10.1111/cge.12031. Epub 2012 Oct 29.

 

• Child neurology: benign nocturnal alternating hemiplegia of childhood.
  Wagener-Schimmel LJ, Nicolai J.
  Neurology. 2012 Oct 30;79(18):e161-3. doi: 10.1212/WNL.0b013e318271f7a6.

 

• Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due to ATP1A3 gene mutations.
  Alexoudi A, Schneider SA.
  Mov Disord. 2012 Oct;27(12):1494.

 

• Alrternating hemiplegia of childhood: a case report and literature review. [Article in Spanish]
  Traut M, Cavagnari BM, Méndez JH, Amartino H.
  Arch Argent Pediatr. 2012 Oct;110(5):e86-90. doi: 10.1590/S0325-00752012000500012.

 

• Clinical spectrum of disease associated with ATP1A3 mutations.
  Ozelius LJ.
  Lancet Neurol. 2012 Sep;11(9):741-3. doi: 10.1016/S1474-4422(12)70185-0. Epub 2012 Aug 2.

 

• Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
  Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J.
  Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.

 

• De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
  Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB.
  Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

 

• Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate.
  Chi LY, Zhao XH, Liu XW, Jiang WJ, Chi ZF, Wang SJ.
  Int J Neurosci. 2012 Sep;122(9):506-10. doi: 10.3109/00207454.2012.683216. Epub 2012 May 11.

 

• An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins.
  Incorpora G, Pavone P, Polizzi A, Cocuzza M, Privitera M, Pavone L, Ruggieri M.
  J Child Neurol. 2012 May;27(5):657-62. doi: 10.1177/0883073811436249. Epub 2012 Feb 28.

 

• Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiology.
  Inui T, Saito Y, Sakuma H, Hatakeyama H, Goto Y, Arai H, Sasaki M.
  Brain Dev. 2012 Mar;34(3):196-200. doi: 10.1016/j.braindev.2011.04.008. Epub 2011 May 7.

 

• Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
  Fons C, Campistol J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F, Nevšímalová S, Laan L, Casaer P, Spiel G, Ninan M, Sange G, Artuch R, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium.
  Eur J Paediatr Neurol. 2012 Jan;16(1):10-4. doi: 10.1016/j.ejpn.2011.08.006. Epub 2011 Sep 25.

 

• Clinical features of nine patients with alternating hemiplegia of childhood.
  Tatlı B, Aydınlı N, Calışkan M, Ozmen M, Kara B, Yaramış A, Dilber C, Yılmaz K, Küçükuğurluoğlu Y, Ekici B.
  J Paediatr Child Health. 2011 Oct;47(10):734-6. doi: 10.1111/j.1440-1754.2011.02042.x. Epub 2011 Mar 30.

 

• Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution.
  Villéga F, Picard F, Espil-Taris C, Husson M, Michel V, Pedespan JM.
  Brain Dev. 2011 Jun;33(6):525-9. doi: 10.1016/j.braindev.2010.08.008. Epub 2010 Sep 2.

 

• Absence of small-vessel abnormalities in alternating hemiplegia of childhood.
  Sasaki M, Matsufuji H, Inui T, Arima K.
  Brain Dev. 2011 May;33(5):390-3. doi: 10.1016/j.braindev.2010.08.011. Epub 2010 Sep 9.

 

• Migraine variants and unusual types of migraine in childhood. [Article in German]
  Gaul C, Kraya T, Holle D, Benkel-Herrenbrück I, Schara U, Ebinger F.
  Schmerz. 2011 Apr;25(2):148-56. doi: 10.1007/s00482-011-1021-8.

 

• Alternating hemiplegia in a child misdiagnosed as intractable epilepsy successfully treated with aripiprazole: a case report.
  Badoe EV.
  West Afr J Med. 2011 Mar-Apr;30(2):140-4. .

 

• Alternating hemiplegia of childhood: successful treatment with topiramate and flunarizine, a case report.
  Aishworiya R, Low PS, Tay SK.
  Ann Trop Paediatr. 2011;31(2):149-52. doi: 10.1179/1465328111Y.0000000007.

 

• Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.
  Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium, Arzimanoglou A.
  Brain. 2010 Dec;133(Pt 12):3598-610. doi: 10.1093/brain/awq295. Epub 2010 Oct 24.

 

• Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).
  Vuillaumier-Barrot S, Panagiotakaki E, Le Bizec C, El Baba C; ENRAHs for SME Consortium, Fontaine B, Arzimanoglou A, Seta N, Nicole S.
  Neuropediatrics. 2010 Dec;41(6):267-9. doi: 10.1055/s-0031-1271767. Epub 2011 Mar 28.

 

• Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood.
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• Child neurology: alternating hemiplegia of childhood.
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• Neonatal onset of bath-induced alternating hemiplegia of childhood.
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• Glut1 deficiency and alternating hemiplegia of childhood.
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• Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome.
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• Treatment of alternating hemiplegia of childhood with aripiprazole.
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• International Classification of Functioning, Disability and Health in subjects with alternating hemiplegia of childhood.
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• Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings.
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• CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
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• Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia.
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• The treatment and management of alternating hemiplegia of childhood.
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• A boy with nystagmus, refractory dystonia and apneic attack due to alternating hemiplegia of childhood. [Article in Japanese]
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• Topiramate: a new agent for patients with alternating hemiplegia of childhood.
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• Brainstem dysfunction in alternating hemiplegia of childhood: a neurophysiological study.
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• Small vessel abnormalities in alternating hemiplegia of childhood: pathophysiologic implications.
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• Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up.
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• Single photon emission computed tomography findings in a case of alternating hemiplegia of childhood in relation to migraine. [Article in Japanese]
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• [Alternating hemiplegia of childhood treated as epilepsy. Two new cases]. [Article in Spanish]
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• 'Familial alternating hemiplegia of childhood or channelopathy? A report with valuable pathophysiological implications'.
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• Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
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• Alternating hemiplegia of childhood: presentation of two cases regarding the extent of variability.
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• Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood?
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• Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.
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• Clinical characteristics of alternating hemiplegia of childhood in 13 patients. [Article in Chinese]
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• Caesarean section under general anaesthetic in a woman with alternating hemiplegia of childhood.
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• Ocular motor features of alternating hemiplegia of childhood.
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• Benign nocturnal alternating hemiplegia of childhood: six patients and long-term follow-up.
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• Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan.
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• Successful trial of amantadine hydrochloride for two patients with alternating hemiplegia of childhood.
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• Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.
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• Exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy.
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• Alternating hemiplegia of childhood: insights into its pathophysiology.
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• Alternating hemiplegia of childhood: treatment of attacks with chloral hydrate and niaprazine.
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• Acute alternating hemiplegia. A case report.
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• Alternating hemiplegia of childhood.
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• Benign familial nocturnal alternating hemiplegia of childhood.
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• Short latency somatosensory evoked potentials and 99mTc-HMPAO SPECT in a case of flunarizine-effective alternating hemiplegia in infancy.
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• Alternating hemiplegia in childhood: a cross-sectional study.
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• Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood?
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• Acute hemiplegia syndrome in childhood.
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• Moyamoya disease and alternating hemiplegia. A report of two cases.
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• Alternating hemiplegia syndrome: electroencephalogram, brain mapping, and brain perfusion SPECT scan study in a Chinese girl.
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• Alternating hemiplegia of childhood.
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• Single-photon emission computed tomography investigations of alternating hemiplegia of childhood.
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• Alternating hemiplegia of childhood: a study of 10 patients and results of flunarizine treatment.
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• Alternating hemiplegia of childhood: studies of regional cerebral blood flow using 99mTc-hexamethylpropylene amine oxime single-photon emission computed tomography.
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• A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.
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• Alternating hemiplegia in childhood: 23 cases in Japan.
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• Alternating hemiplegia of childhood: case report.
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• Ictal 99mTc-HMPAO SPECT in alternating hemiplegia.
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• 123I-iodoamphetamine SPECT brain imaging in alternating hemiplegia.
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• Acute infantile hemiplegia caused by cerebral ischemic infarction. Etiology, clinical features and investigations.
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• Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy.
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