Back Donate
Donate
Default image for pages

Brashear A, Cook JF, Hill DF, Amonsah A, Snively BM, Light L, Boggs N, Suerken CK, Stacy M, Ozelius L, Sweadner KJ, McCall WV. “Psychiatric Disorders in Rapid-Onset Dystonia Parkinsonism.” Neurology (September 11, 2012): 1168-1173.

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA. “Missense Variants in ATP1A3 and FXYD Gene Family are Associated with Childhood-onset Schizophrenia.” Molecular Psychiatry. 2018 Jun 12. Abstract: https://www.nature.com/articles/s41380-018-0103-8

Holm TH, Isaksen TJ, Clerup S, Heuck A, Nissen P, Lykke-Hartmann K. “Cognitive Deficits Caused by a Disease-Mutation in the a3 Na(+)/K(+)-ATPase Isoform.” Scientific Reports (August 23, 2016).

Hunanyan Aresn, Fainberg N, Linabarger M, Arehart E, Leonard A, Adil S, Mikati M. “Knock-in Mouse Model of Alternating Hemiplegia of Childhood: Behavioral and Electrophysiologic Characterization.” Epilepsia. 2015 Jan; 56(1): 82-93.

Jasien J, Bonner M, D’alli R, Prange L, Mclean M, Sachdev M, Uchitel J, Ricano J, Smith B, Mikati M. “Cognitive, Adaptice, and Behavioral Profiles and Management of Alternating Hemiplegia of Childhood.” Developmental Medicine & Child Neurology. 2019 May; 61(5): 547-554. Abstract: https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.14077

Prange L, Shashi V, Herman K, Schiffmann r, Abdelnour E, Jasien J, Kansagra S, McLean m, Walley N, Azar A, Heinzen E, Mikat M. “D-Demo, A Novel and Distinct Phenotype Caused by ATP1A3 Mutations.” Neurology 88, no.16, Supplement P4.157 (April 18, 2017).

Torres A, Brownstein C, Tembulkar S, Graber K, et al. “De Novo ATP1A3 and Compound Heterozygous NLRP3 Mutations in a Child with Autism Spectrum Disorder, Episodic Fatigue and Somnolence, and Muckle-Wells Syndrome.” MGM Reports 2018 Sep; 15: 23-29. Fulltext:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005789/pdf/main.pdf

Rosewich H. Baethmann M, Ohlenbush A, Gartner J, Brockmann K. “A Novel ATP1A3 Mutation with Unique Clinical Presentation.” J Neurol Sci. 341 (June 15, 2014).

Younes TB, Benrhouma H, Klaa H, Rouissi A, Chaabouni M, Kraoua I, Youssef-Turki IB. “Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.” Neuropediatrics. 2018 Oct; 49(5): 339-341. Abstract: https://www.thieme-connect.com/DOI/DOI?10.1055/s-0038-1667024

Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carriho L, Fiori S, Lourenco CM, Sawyer S, Steinfeld R, Gartner J, Brockmann K. “The Expanding Clinical and Genetic Spectrum of ATP1A3-Related Disorders.” Neurology 18, no. 82 (Mar 18, 2014): 945-955.