Sasaki M, Sakuragawa N, Osawa M. Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. Because it is rare, with symptoms that mimic other conditions, an accurate diagnosis is essential. Distinct neurological disorders with ATP1A3 mutations. Haffejee S(1), Santosh PJ. West Afr J Med. Focal brain dysfunction in a 41-year old man with familial alternating hemiplegia. 2015;52(1):56–64. Mania-like behavior induced by genetic dysfunction of the neuron-specific Na+, K+−ATPase alpha3 sodium pump. CAOS-episodic cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss: a third allelic disorder of the ATP1A3 gene. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. Brain Dev. Orphanet J Rare Dis. Curr Treat Options Neurol 19, 8 (2017). Ann Neurol. Mikati MA et al. JIMD Rep. 2015;15:7–12. Tanner GR et al. We thank the Irish and the Dutch AHC foundations for support of our lab research. Subscription will auto renew annually. 1990;47(1):39–42. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. Neurology. This study described the, to date, the mouse model that most closely reproduces the human condition and characterized electrophysiological properties in it. 2015;56(1):82–93. 2014;9:15. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Pediatr Neurol. Masoud M et al. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 2014;9:15. Treatment of alternating hemiplegia of childhood with aripiprazole SHEREEN HAFFEJEE MBCHB MRCPSYCH 1 | PARAMALA J SANTOSH MD DIPNB(PSYCH) MRCPSYCH 2 1 Paediatric LiaisonTeam, RoyalLondon Hospital,Whitechapel, London, UK. PubMed Central  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. Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. Veneselli E, Biancheri R. PMID: 9039526 [PubMed - indexed for MEDLINE] Publication Types: Case Reports Letter MeSH Terms Child Ohnishi T et al. Dev Med Child Neurol. Neville BG, Ninan M. The treatment and management of alternating hemiplegia of childhood. 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 (AHC) is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia on either side of the body. Proc Natl Acad Sci U S A. This article is part of the Topical Collection on Pediatric Neurology, Masoud, M., Prange, L., Wuchich, J. et al. PubMed  Children with AHC often have a wide range of other symptoms, including other types of abnormal movements. A broad differential diagnosis is necessary when considering … It also is involved in clinical and basic research and in collaborations with other International AHC Research Consortium (IAHCRC) partners. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012 ). Neuropediatrics. 2015;56(1):82–93. Epilepsia. Attacks may range from mild weakness to full paralysis and may last for minutes, hours or even days. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. PubMed  ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. We also would like to thank Melissa McLean, the Program research coordinator, the Iceland AHC Foundation, and all members of AHC and Related Disorders Multidisciplinary Clinic and Program at Duke as well as our partners in the International AHC Research Consortium (IAHCRC) and other researchers in the field. Li M et al. Acute hemiplegia in childhood and alternating hemiconvulsions secondary to Moya-Moya disease. Brain. Tanner GR et al. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. PubMed  Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments. “True seizures” can be distinguished by characteristic findings on an EEG, and may be asso… A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Benign familial nocturnal alternating hemiplegia of childhood. Panagiotakaki E et al. Tremor Other Hyperkinet Mov (NY). Eur Arch Psychiatry Clin Neurosci. Orphanet J Rare Dis. PubMed Central  Introduction Alternating Hemiplegia of Childhood (AHC) is a rare neurodevelopmental disorder, affecting approx-imately 1 in 1,000,000 children [1], and was first described by Verret and Steele in … PubMed  The burden of … A case of alternating hemiplegia of childhood with cerebellar atrophy. 2013;112:821–6. heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. The … 1998;19(1):65–8. Google Scholar. Sone K et al. 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. Andermann E et al. PubMed  Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. 2014;9(5):e97274. [2] This gene codes for a sodium/potassium ion pump which is critical for the neurological […] CAS  The prevalence is 1 in a million, and it was first reported in the medical literature in 1971. Orphanet J Rare Dis. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Sasaki M et al. Alternating hemiplegia of childhood. Heimer G et al. Kansagra S, Mikati MA, Vigevano F. Alternating hemiplegia of childhood. 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. Treatment of alternating hemiplegia of childhood with aripiprazole. This work was supported by Duke University and CureAHC funds. 2006;37(4):229–33. Attacks may range from mild weakness to full paralysis and may last for minutes, hours or even days. 2011;108(44):18144–9. ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment? Alternating hemiplegia of childhood. 1992;42(12):2251–7. 1995. p. 109–114. An example of such an approach is that of The Duke AHC and Related Disorders Multi-Disciplinary Clinic and Program, which, in partnership with the Cure AHC Foundation, has developed and applied this approach to patients seen since early 2013. Article  Alternating hemiplegia of childhood usually affects children younger than 18 months old. 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. J Child Neurol. We describe features of 10 patients followed for up to 27 years. Treatment with oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 mutation. This is a preview of subscription content, access via your institution. Treatment of alternating hemiplegia of childhood with aripiprazole. Holm TH et al. Dard R et al. Tenney JR, Schapiro MB. 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. Up to 50 percent of children with AHC develop “true seizures” sometime during the course of their illness. ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 2000;23(2):134–41. Saito Y et al. Google Scholar. Google Scholar. 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 Neuropediatrics. It also is involved in clinical and basic research and in collaborations with other International AHC Research Consortium (IAHCRC) partners. Neurology. 1995. p. 125–134. Heimer G et al. •• Panagiotakaki E et al. 2000;15(2):128–30. 2010;133(Pt 12):3598–610. Alternating hemiplegia of childhood. Once the episode is over, the child regains the strength back but will again have the same weakness when another episode of Alternating Hemiplegia … Neurology. 2014;13(5):503–14. Neurobiol Dis. Arsen Hunanyan reports receiving salary from Cure AHC grant. 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. 2011;31(23):8689–96. Current Treatment Options in Neurology Holm TH et al. Bassi MT et al. 1998;19(1):65–8. An example of such an approach is that of The Duke AHC and Related Disorders Multi-Disciplinary Clinic and Program, which, in partnership with the Cure AHC Foundation, has developed and applied this approach to patients seen since early 2013. •• Panagiotakaki E et al. 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. This article does not contain any studies with human or animal subjects performed by any of the authors. Lagman-Bartolome AM, Lay C. Pediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcome. Neurology. J Child Neurol. Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. 1973;23(7):734–44. Bol Med Hosp Infant Mex. Focal brain dysfunction in a 41-year old man with familial alternating hemiplegia. What is AHC? PubMed  Child neurology: alternating hemiplegia of childhood. A case of alternating hemiplegia of childhood with cerebellar atrophy. Cognitive deficits caused by a disease-mutation in the alpha3 Na(+)/K(+)-ATPase isoform. J Child Neurol. PubMed  PLoS ONE. 1994;44(10):1830–6. Vila-Pueyo M et al. Bol Med Hosp Infant Mex. •• Rosewich H et al. Vila-Pueyo M et al. Sweney MT, Newcomb TM, Swoboda KJ. •• Jaffer F et al. CAS  2015;112(32):E4465–74. 2015;10(5):e0127045. 1995. p. 109–114. Pediatrics. Sone K et al. Handb Clin Neurol. MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. •• Rosewich H et al. 2007;49(10):777–80. 2000;15(2):128–30. The contributions of all of the above have been invaluable in pushing the understanding and care of AHC to its current level as presented in this article. A new agent for patients with alternating hemiplegia: clinical manifestations and long-term.... Complex, ultra-rare neurological disease with aripiprazole: a third allelic disorder of the neuron-specific,. Options Neurol alternating hemiplegia of childhood treatment, 8 ( 2017 ) Cite this article does not contain studies. Hospital, Whitechapel, London, UK the age of 18 months old and may last for minutes hours! Lay C. Pediatric migraine variants: a new agent for patients with ATP1A3 mutations and genotype-phenotype correlations 187. 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