Roubergue A et al. Distinct neurological disorders with ATP1A3 mutations. Google Scholar. West Afr J Med. Single K ATP channel opening in response to action potential firing in mouse dentate granule neurons. Pediatr Neurol. J Comp Neurol. We thank the Irish and the Dutch AHC foundations for support of our lab research. J Child Neurol. Carlson CB, Harvey FH, Loop J. 2014;344(1–2):37–42. Dev Med Child Neurol. This article does not contain any studies with human or animal subjects performed by any of the authors. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. Mania-like behavior induced by genetic dysfunction of the neuron-specific Na+, K+−ATPase alpha3 sodium pump. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. Pediatr Neurol. Ju J et al. Sasaki M, Sakuragawa N, Osawa M. Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. Int J Neurosci. Topical Collection on Pediatric Neurology, https://doi.org/10.1007/s11940-017-0444-7, Pediatric Neurology (R-M Boustany, Section Editor). Kansagra S, Mikati MA, Vigevano F. Alternating hemiplegia of childhood. Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. Developmental Medicine and Child Neurology, in press. Cite this article. Google Scholar. Vila-Pueyo M et al. Part of Springer Nature. What is AHC? This article does not contain any studies with human or animal subjects performed by any of the authors. Alternating hemiplegia of childhood or familial hemiplegic migraine? Diagnosis and Treatment of Alternating Hemiplegia of Childhood. Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by recurrent attacks of hemiplegia affecting either side of the body, abnormalities of ocular movement, movement disorders, and progressive developmental delay. Orphanet J Rare Dis. Bottger P et al. Ju J et al. Current Treatment Options in Neurology Alternating hemiplegia of childhood in half-sisters. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, CAPOS and beyond. Tanner GR et al. Neurology. 2015;56(1):82–93. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 1994;44(10):1830–6. 2000;31(6):307–9. Brain. This article, concurrently with above article, established that ATP1A3 mutations cause AHC. Pediatrics. Wong VC, Kwong AK. Neurology. heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Mania-like behavior induced by genetic dysfunction of the neuron-specific Na+, K+−ATPase alpha3 sodium pump. Article  The burden of … Mohamad A. Mikati MD. Alternating Hemiplegia of Childhood Foundation 2000 Town Center Suite 1900 Southfield, MI 48075 (313) 663-7772 Article  De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Subscription will auto renew annually. We report the pharmacological treatment of a case of alternating hemiplegia of childhood (AHC) in a 14-year-old female with an established diagnosis. 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 Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Neuropediatrics. [1] A groundbreaking discovery in 2012 highlighted that the ATP1A3 gene causes approximately 70-80% of cases. Acute hemiplegia in childhood and alternating hemiconvulsions secondary to Moya-Moya disease. Pledger GW et al. Mikati MA et al. 2011;519(2):376–404. Treatment with adenosine-5'-triphosphate was correlated with a marked amelioration of alternating hemiplegia of childhood episodes, and psychomotor development has improved. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. [2] This gene codes for a sodium/potassium ion pump which is critical for the neurological […] Report of a case associated with Down’s syndrome. Description. The program provides comprehensive care and education directly to AHC patients and their families and collaborates with referring physicians on the care of patients with AHC whether evaluated at Duke clinics or not. Holm TH et al. 2015;10:123. Panagiotakaki E et al. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 2011;31(23):8689–96. 1997;247(1):35–41. Brain Dev. Dard R et al. Bol Med Hosp Infant Mex. Andermann E et al. •• Hunanyan AS et al. J Child Neurol. Tenney JR, Schapiro MB. 2010;133(Pt 12):3598–610. Kansagra S, Mikati MA, Vigevano F. Alternating hemiplegia of childhood. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients. This article, concurrently with above article, established that ATP1A3 mutations cause AHC. Distinct neurological disorders with ATP1A3 mutations. PubMed Central  It causes recurring episodes of hemiplegia that affect one or both sides of the body. Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by recurrent attacks of hemiplegia affecting either side of the body, abnormalities of ocular movement, movement disorders, and progressive developmental delay. JIMD Rep. 2015;15:7–12. PET scan findings in alternating hemiplegia of childhood. A case of alternating hemiplegia of childhood with cerebellar atrophy. 2010;74(14):e57–9. Ohnishi T et al. 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. Orphanet J Rare Dis. Arsen Hunanyan reports receiving salary from Cure AHC grant. Alternating hemiplegia of childhood: treatment of attacks with chloral hydrate and niaprazine. And Jeffrey Wuchich declare no conflict of interest genetics of this condition of subscription content, access via institution... Neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia alternating hemiplegia of childhood treatment childhood: clinical manifestations and long-term outcome ). 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