Brain Dev. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Alternating hemiplegia of childhood or familial hemiplegic migraine? Tax calculation will be finalised during checkout. This study described the, to date, the mouse model that most closely reproduces the human condition and characterized electrophysiological properties in it. 1995. p. 109–114. Google Scholar. 2012;11(9):764-73. Google Scholar. Alternating hemiplegia of childhood usually affects children younger than 18 months old. 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. Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments. Panagiotakaki E et al. West Afr J Med. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. It also is involved in clinical and basic research and in collaborations with other International AHC Research Consortium (IAHCRC) partners. heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Heimer G et al. Successful trial of amantadine hydrochloride for two patients with alternating hemiplegia of childhood. 2015;77:88–93. Google Scholar. Neurology. 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. CAS  Roubergue A et al. Benign familial nocturnal alternating hemiplegia of childhood. A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. Swoboda KJ et al. Attacks may range from mild weakness to full paralysis and may last for minutes, hours or even days. Ohnishi T et al. 2015;138(Pt 10):2859–74. Int J Neurosci. Sci Rep. 2016;6:31972. 2006;37(4):229–33. West Afr J Med. 2010;133(Pt 12):3598–610. Focal brain dysfunction in a 41-year old man with familial alternating hemiplegia. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. Alternating hemiplegia of childhood or familial hemiplegic migraine? Bassi MT et al. Holm TH et al. It typically presents before the age of 18 months. Genotype-phenotype correlations in alternating hemiplegia of childhood. J Neurosci. Alternating hemiplegia of childhood (AHC) is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia on either side of the body. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. Article  What is AHC? Mania-like behavior induced by genetic dysfunction of the neuron-specific Na+, K+−ATPase alpha3 sodium pump. Epilepsia. 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. PLoS ONE. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. The clinic is staffed with physicians and experts from Neurology, Cardiology, Child Behavioral Health, Medical Genetics, Neurodevelopment, Neuropsychology, Nursing, Physical and Occupational Therapies, Psychiatry, Sleep Medicine, and Speech/Language Pathology. Nat Genet. Sasaki M, Sakuragawa N, Osawa M. Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. Curr Treat Options Neurol 19, 8 (2017). This work was supported by Duke University and CureAHC funds. 1988;38(5):751–4. Neuropediatrics. PubMed Google Scholar. 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. 2004;41(8):621–8. This article is the most recent study that provides a detailed study of the genotype-phenotype correlations in AHC. 2015;52(1):56–64. 2012;44(9):1030–4. It also is involved in clinical and basic research and in collaborations with other International AHC Research Consortium (IAHCRC) partners. Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. 2010;74(14):e57–9. Mohamad A. Mikati MD. Neurology. Alternating hemiplegia of childhood (AHC) is a neurological disorder that requires lifelong care. We report the pharmacological treatment of a case of alternating hemiplegia of childhood (AHC) in a 14-year-old female with an established diagnosis. 1994;44(10):1812–4. 2014;13(5):503–14. Know the causes, symptoms, treatment and prognosis of alternating hemiplegia. •• Jaffer F et al. Neurology. [2] This gene codes for a sodium/potassium ion pump which is critical for the neurological […] Vila-Pueyo M et al. J Comp Neurol. Google Scholar. 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. 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