Alternating hemiplegia of childhood is a rare and severe neurodevelopmental syndrome that affects 1 in 1,000,000 children. Symptoms include movement problems similar to cerebral palsy, bouts of temporary, but sometimes painful paralysis that can last for minutes to days, behavioral problems like ADHD and learning challenges. Additionally, approximately 50% of those diagnosed with AHC also present with true epilepsy.
AHC gene discovery and characterization
In 2012, IGM investigators joined forces with collaborators worldwide and discovered the gene that is responsible for the majority of patients with this AHC. Although the gene involved in the majority of patients with AHC has been determined, there is currently no cure or treatment for AHC. We, along with researchers worldwide, are now seeking to understand how the ion channel dysfunction responsible for AHC affects neuronal activity. Further characterization of the mechanisms of this disease may allow for the development of targeted treatments for this disorder.
To learn more about AHC: http://ahcim.com/category/documentaries/
Funding: CURE AHC
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Goldstein DB et al French AHC Consortium, Internation AHC Consortium. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood- a study of 155 patients. Orphanet J Rare Dis. 2015, Sep 26; 10:123
Li M, Jazayeri D, Corry B, McSweeney KM, Heinzen EL, Goldstein DB, Petrou S. A functional correlate of severity I alternating hemiplegia of childhood. Neurobiol Dis. 2015, May 77:88-93.
Heinzel EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Johannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KH, van den Maagdenberg A, Vilsen B, ATP1A3 Working Group. Distinct neurological disorders with ATP1A3 mutations. Lancel Neurol. 2014, May 13(5):503-14.
Heinzen EL, Swoboda KH, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium, BIobanca e Registro Clinico per l’Emiplegia Alternante (IBAHC) Consortium, European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterprise (SMEs) Consortium, Fiori S, Abiusi E, Di Pietro L et al, Goldstein DB. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012. Sept,44(9):1030-4.