1990;47(1):39–42. Topiramate: a new agent for patients with alternating hemiplegia of childhood. Mikati M, Fischman A. Mikati M, Fischman A. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Neurology. Sci Rep. 2016;6:31972. Author information: (1)Paediatric Liaison Team, Royal London Hospital, Whitechapel, London, UK. 1994;44(10):1830–6. These include its rarity of about one case per million, the variability of the manifestations, with seven characteristic features, and the potential for Alternating hemiplegia of childhood: treatment of attacks with chloral hydrate and niaprazine. Epilepsia. 2004;41(8):621–8. Termsarasab P, Yang AC, Frucht SJ. The majority of cases (approximately 80%) are caused by mutations in the gene ATP1a3, as well as other potential genetic root causes, which Cure AHC funds active research to discover. Diagnosis and Treatment of Alternating Hemiplegia of Childhood. Sweney MT, Newcomb TM, Swoboda KJ. Cite this article. Na, K-ATPase alpha3 is a death target of Alzheimer patient amyloid-beta assembly. 1994;44(10):1830–6. 1990;47(1):39–42. The burden of … 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. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 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 2015;5:336. Badoe EV. 2012;11(9):764-73. 2013;112:821–6. ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment? Article Adenosine-5'-triphosphate has a vasodilatory effect, can enhance muscle strength and physical … Bourgeois M, Aicardi J, Goutières F. Alternating hemiplegia of childhood. Pediatr Neurol. Wong VC, Kwong AK. 2011;30(2):140–4. J Comp Neurol. Eur Arch Psychiatry Clin Neurosci. 2015;138(Pt 10):2859–74. These include tonic attacks (stiffening of a limb), dystonic posturing (twisting postures), abnormal involuntary eye movements, developmental delays, fluctuating mental status and even true seizures. 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. A functional correlate of severity in alternating hemiplegia of childhood. PubMed Tremor Other Hyperkinet Mov (NY). ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. This article, concurrently with above article, established that ATP1A3 mutations cause AHC. Andermann E et al. Alternating hemiplegia of childhood is a rare syndrome characterized by onset before 18 months of age of frequent attacks of alternating paralysis, transient ocular palsies, nystagmus, choreoathetosis, and autonomic dysfunction. Bassi MT et al. 2 Centre for Interventional Paediatric Psychopharmacology, Department ofChild& The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. Alternating Hemiplegia of Childhood Foundation 2000 Town Center Suite 1900 Southfield, MI 48075 (313) 663-7772 1973;23(7):734–44. Neurology. West Afr J Med. heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Dangond F et al. 2010;74(14):e57–9. Heimer G et al. Neurology. Termsarasab P, Yang AC, Frucht SJ. 2015;5:336. 2007;49(10):777–80. 2011;519(2):376–404. 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 … 2015;10:123. Proc Natl Acad Sci U S A. CAOS-episodic cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss: a third allelic disorder of the ATP1A3 gene. Demos MK et al. A novel ATP1A2 mutation. Correspondence to This study described the, to date, the mouse model that most closely reproduces the human condition and characterized electrophysiological properties in it. •• Rosewich H et al. This article is the most recent study that provides a detailed study of the genotype-phenotype correlations in AHC. The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. 1995. p. 125–134. 2010;74(14):e57–9. Characterization and Analysis of Inter-relationships of Motor Function Domains in Patients with Alternating Hemiplegia of Childhood. Neuropediatrics. 2014;82(6):482–90. PubMed Diagnosis and Treatment of Alternating Hemiplegia of Childhood. Kansagra S, Mikati MA, Vigevano F. Alternating hemiplegia of childhood. Classic AHC causes recurrent episodes of paralysis () that involve one or both sides of the body, multiple limbs, or a single limb. 2011;519(2):376–404. What is AHC? 2015;37(9):907–10. Developmental Medicine and Child Neurology, in press. Google Scholar. Lancet Neurol. 2000;23(2):134–41. 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