Dev Med Child Neurol. Viollet L et al. Topiramate: a new agent for patients with alternating hemiplegia of childhood. This article does not contain any studies with human or animal subjects performed by any of the authors. Duke University Children Health Center, 2301 Erwin Rd., Durham, NC, 27710, USA, Melanie Masoud BA, Lyndsey Prange CPNP, Arsen Hunanyan PhD & Mohamad A. Mikati MD, Cure AHC, Inc., 545 Irina Drive, Rolesville, NC, 27571, USA, You can also search for this author in 1993;122(5):673–9. 2011;30(2):140–4. Learn more about Institutional subscriptions. 2011;31(23):8689–96. 2012;44(9):1030–4. Alternating hemiplegia of childhood. Dev Med Child Neurol. Roubergue A et al. © 2021 Springer Nature Switzerland AG. We would like to thank CureAHC for the funding of our laboratory and clinical research as well as for the partnership with them in AHC patient care. Treatment of alternating hemiplegia of childhood with aripiprazole. Google Scholar. This study established that AHC patients have also cardiac abnormalities that potentially could prove to be contributing to the increased risks of motality in these patients. 2014;344(1–2):37–42. Neuropediatrics. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients Author links open overlay panel Livia Pisciotta a 1 Marcella Gherzi a 1 Michela Stagnaro a Maria Grazia Calevo b Melania Giannotta c Maria Rosaria Vavassori d Edvige Veneselli a I.B.AHC Consortium 2 Elisa De Grandis a 1994;44(10):1812–4. Kirshenbaum GS et al. Neurology. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. Pediatrics. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 1994;44(10):1830–6. Once the episode is over, the child regains the strength back but will again have the same weakness when another episode of Alternating Hemiplegia … Lancet Neurol. Carlson CB, Harvey FH, Loop J. Subscription will auto renew annually. Li M et al. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Focal brain dysfunction in a 41-year old man with familial alternating hemiplegia. PubMed Google Scholar. 2015;37(9):907–10. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. Termsarasab P, Yang AC, Frucht SJ. J Med Genet. 1995. p. 109–114. [2] This gene codes for a sodium/potassium ion pump which is critical for the neurological […] 1994;44(10):1830–6. This study established that AHC in the majority of patients is caused by mutations of the ATP1A3 gene and that such mutations cause loss of function of enzyme activity without reducing the expression of that protein. Saito Y et al. Successful trial of amantadine hydrochloride for two patients with alternating hemiplegia of childhood. The prevalence is 1 in a million, and it was first reported in the medical literature in 1971. Google Scholar. •• Hunanyan AS et al. •• Panagiotakaki E et al. Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain. Pledger GW et al. 2014;82(6):482–90. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. Cognitive deficits caused by a disease-mutation in the alpha3 Na(+)/K(+)-ATPase isoform. This study described the, to date, the mouse model that most closely reproduces the human condition and characterized electrophysiological properties in it. Int J Neurosci. Bol Med Hosp Infant Mex. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012 ). 2015;56(1):82–93. Brain. Alternating hemiplegia of childhood (AHC) is a neurological disorder that requires lifelong care. J Pediatr. We report the pharmacological treatment of a case of alternating hemiplegia of childhood (AHC) in a 14-year-old female with an established diagnosis. Treatment with oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 mutation. Bottger P et al. 2015;112(32):E4465–74. Brain Dev. 2014;9:15. Sone K et al. Mohamad A. Mikati reports grants from Cure AHC, the Dutch AHC and the Irish AHC foundations during the conduct of the study. Cornelio-Nieto JO et al. 2016;11(1):55. Mohamad A. Mikati reports grants from Cure AHC, the Dutch AHC and the Irish AHC foundations during the conduct of the study. 2014;13(5):503–14. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, CAPOS and beyond. This article reported the first family with AHC establishing genetic etiology of the disorder for the first time. Child neurology: alternating hemiplegia of childhood. 1997;247(1):35–41. PubMed  Report of a case associated with Down’s syndrome. 2015;138(Pt 10):2859–74. This article is part of the Topical Collection on Pediatric Neurology, Masoud, M., Prange, L., Wuchich, J. et al. Brain Dev. Developmental Medicine and Child Neurology, in press. Google Scholar. Alternating hemiplegia of childhood: A rare neurological disorder with frequent temporary episodes of paralysis of one side of the body (hemiplegia) usually beginning before the age of 18 months. Intermediate phenotypes of ATP1A3 mutations: phenotype-genotype correlations. Alternating hemiplegia of childhood in half-sisters. Masoud M et al. ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment? - 93.113.15.138. Dard R et al. 1995. p. 125–134. Alternating hemiplegia of childhood usually affects children younger than 18 months old. Article  CAOS-episodic cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss: a third allelic disorder of the ATP1A3 gene. Topiramate: a new agent for patients with alternating hemiplegia of childhood. Bol Med Hosp Infant Mex. 2000;31(6):307–9. Up to 50 percent of children with AHC develop “true seizures” sometime during the course of their illness. Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). 2015;10(5):e0127045. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. Saito Y et al. This study established that AHC patients have also cardiac abnormalities that potentially could prove to be contributing to the increased risks of motality in these patients. 1988;38(5):751–4. PLoS ONE. Sci Rep. 2016;6:31972. Badoe EV. Distinct neurological disorders with ATP1A3 mutations. PET scan findings in alternating hemiplegia of childhood. PubMed  Dard R et al. Dev Med Child Neurol. Neuropediatrics. 1 A wide range of other symptoms can also accompany the hemiplegic episodes, 2 Centre for Interventional Paediatric Psychopharmacology, Department ofChild& Children with AHC often have a delay in diagnosis or are misdiagnosed. Lancet Neurol. Alternating Hemiplegia of Childhood (AHC): AHC is a rare neurological disorder in which repeated, transient attacks of hemiplegia (paralysis of a portion of the body, including the face) occur, usually affecting one side of the body or the other, or both sides of the body at once. https://doi.org/10.1007/s11940-017-0444-7, DOI: https://doi.org/10.1007/s11940-017-0444-7, Over 10 million scientific documents at your fingertips, Not logged in Google Scholar. heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Handb Clin Neurol. https://doi.org/10.1007/s11940-017-0444-7, DOI: https://doi.org/10.1007/s11940-017-0444-7, Over 10 million scientific documents at your fingertips, Not logged in Attacks may range from mild weakness to full paralysis and may last for minutes, hours or even days. Mania-like behavior induced by genetic dysfunction of the neuron-specific Na+, K+−ATPase alpha3 sodium pump. Subscription will auto renew annually. •• Rosewich H et al. 2015;52(1):56–64. Tenney JR, Schapiro MB. Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments. J Med Genet. Lagman-Bartolome AM, Lay C. Pediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcome. ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment? Article  Cornelio-Nieto JO et al. Verret S, Steele JC. Because it is rare, with symptoms that mimic other conditions, an accurate diagnosis is essential. 2000;15(2):128–30. A case of alternating hemiplegia of childhood with cerebellar atrophy. The burden of … Alternating hemiplegia in a child misdiagnosed as intractable epilepsy successfully treated with aripiprazole: a case report. Dev Med Child Neurol. We would like to thank CureAHC for the funding of our laboratory and clinical research as well as for the partnership with them in AHC patient care. volume 19, Article number: 8 (2017) Article  Heimer G et al. Orphanet J Rare Dis. 2010;74(14):e57–9. Neurology. 2006;37(4):229–33. Alternating hemiplegia of childhood is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia on either side of the body and other paroxysmal events such as seizures, dystonia, tonic episodes, abnormal eye movements or autonomic dysfunction, primarily due to de novo pathogenic mutations in the ATP1A3 gene. 2000;31(6):307–9. Child neurology: alternating hemiplegia of childhood. The burden of neuromorbidities is significant and … The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. Duke is among the few hospitals with specialists dedicated to treating children with alternating hemiplegia of childhood. Google Scholar. Chi LY et al. 2013;112:821–6. A novel ATP1A2 mutation. 1971;47(4):675–80. CAS  PubMed  Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. “True seizures” can be distinguished by characteristic findings on an EEG, and may be asso… Lagman-Bartolome AM, Lay C. Pediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcome. Tax calculation will be finalised during checkout. Neurology. Roubergue A et al. CAS  Demos MK et al. PubMed  Neurology. Epilepsia. Bottger P et al. Demos MK et al. Duke University Children Health Center, 2301 Erwin Rd., Durham, NC, 27710, USA, Melanie Masoud BA, Lyndsey Prange CPNP, Arsen Hunanyan PhD & Mohamad A. Mikati MD, Cure AHC, Inc., 545 Irina Drive, Rolesville, NC, 27571, USA, You can also search for this author in •• Heinzen EL et al. Current Treatment Options in Neurology Pledger GW et al. Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disease caused by heterozygous de novo missense mutations in the ATP1A3 gene that … Treatment with adenosine-5'-triphosphate was correlated with a marked amelioration of alternating hemiplegia of childhood episodes, and psychomotor development has improved. PubMed  Description. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Jiang W et al. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. Chi LY et al. Brain. 2001;23(5):303–5. 2015;77:88–93. J Comp Neurol. Sasaki M, Sakuragawa N, Osawa M. Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. Alternating hemiplegia in a child misdiagnosed as intractable epilepsy successfully treated with aripiprazole: a case report. Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. 2015;56(1):82–93. Current Treatment Options in Neurology Neville BG, Ninan M. The treatment and management of alternating hemiplegia of childhood. Intermediate phenotypes of ATP1A3 mutations: phenotype-genotype correlations. Orphanet J Rare Dis. ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. Tanner GR et al. 2007;49(10):777–80. 2015;5:336. Tanner GR et al. Treatment of alternating hemiplegia of childhood with aripiprazole. Orphanet J Rare Dis. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. •• Heinzen EL et al. Alternating hemiplegia of childhood or familial hemiplegic migraine? Cite this article. J Child Neurol. Lancet Neurol. CAS  Masoud M et al. Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. It typically presents before the age of 18 months. 2015;57(12):1183–6. Pediatrics. Yang X et al. This study established that AHC in the majority of patients is caused by mutations of the ATP1A3 gene and that such mutations cause loss of function of enzyme activity without reducing the expression of that protein. During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. Google Scholar. Alternating hemiplegia of childhood. This article is part of the Topical Collection on Pediatric Neurology, Masoud, M., Prange, L., Wuchich, J. et al. J Neurol Sci. We describe features of 10 patients followed for up to 27 years. Article  Alternating Hemiplegia is a rare pathological condition of the musculoskeletal system in which a child has episodes of severe weakness affecting one side of the body. Diet in a child misdiagnosed as intractable epilepsy successfully treated with aripiprazole: a new for... Life epilepsy, episodic prolonged apnea, and outcome Rep. 2015 ; (! Hospital, Whitechapel, London, UK in Japan research and in collaborations with other international AHC research Consortium IAHCRC. May affect all the muscles or some muscles of the neuron-specific Na+, K+−ATPase alpha3 pump. 155 patients any of the disorder for the first time ( R-M,. 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