Back Donate
Default image for pages

Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium.; French AHC Consortium.; International AHC Consortium. “Clinical Profile of Patients with ATP1A3 Mutations in Alternating Hemiplegia of Childhood: A Study of 155 Patients.” Orphanet Journal of Rare Diseases (September 26, 2015).

Ito T, Narugami M, Egawa K, Yamamoto H, Asahina N, Kohsaka S, Ishii A, Hirose S, Shiraishi H. “Long-term Follow up of an Adult with Alternating Hemiplegia of Childhood and a p.Gly755Ser Mutation in the ATP1A3 Gene.” Brain Dev. 2018 Mar; 40(3): 226-228. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760417302954?via%3Dihub

Jaffer F, Fawcett K, Sims D, Heger A, Houlden H, Hanna M, Kingston H, Sisodiya S. “Familial Childhood-onset Progressive Cerebellar Syndrome Associated with ATP1A3 Mutation.” Neurology Genetics 3, no.3 (April 2017): e145-.

Junghans C, Vukojević V, Tavraz NN, Maksimov EG, Zuschratter W, Schmitt FJ, Friedrich T. “Disruption of Ankyrin B and Caveolin-1 Interaction Sites Alters Na+,K+-ATPase Membrane Diffusion.” Biophys J. 2017 Nov 21; 113(10): 2249-2260.

Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S,
Nishiyama K, Sanefuji M, Ishizaki, Y Torisu H, Saitsu H, Matsumoto N, Hara T. “De Novo p.Arg756Cys Mutation of ATP1A3 Causes an Atypical Form of Alternating Hemiplegia of Childhood with Prolonged Paralysis and Choreoathetosis.” BMC Neurology 16 (September 15, 2016): 174-.

Heinzen E, Swoboda K, Hitomi Y, et al. “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” Nature Genetics 44, no.9 (September 2012): 1030-1034.

Helseth AR, Hunanyan AS, Adil S, Linabarger M, Sachdev M, Abdelnour E, Arehard E, Szabo M, Richardson J, Wetsel WC, Hochgeschwender U, Mikati MA. “Novel E815K Knock-in Mouse Model of Alternating Hemiplegia of Childhood.” Neurobiology of Disease. 2018 Nov; 119: 100-112. Abstract:
https://www.sciencedirect.com/science/article/pii/S0969996118303504?via%3Dihub

Hoei-Hansen C, Dali C, Lyngbye T, Duno M, Uldall P. “Alternating Hemiplegia of Childhood in Denmark: Clinical Manifestations and ATP1A3 Mutation Status.” European Journal of Paediatric Neurology 18 no. 1 (January 2014): 50-54.

Holm R, Einholm AP, Andersen JP, Vilsen B. “Rescue of Na+ affinity in Aspartate 928 Mutants of Na+,K+-ATPase by Secondary Mutation of Glutamate 314.” Journal of Biological Chemistry (April 10, 2015): 9801-9811.

De Koning, Tom J, Marina Tijssen. “Movement Disorders in 2014: Genetic Advances Spark a Revolution in Dystonia Phenotyping.” Nature Reviews Neurology (January 2015).