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How close is ketamine to routine use in refractory status epilepticus?
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Eleni Panagiotakaki, Diane Doummar, Erika Nogue, Nicolas Nagot, Gaetan Lesca, Florence Riant, Sophie Nicole, Charlene Delaygue, Marie Anne Barthez, Marie Cécile Nassogne, Anne Dusser, Louis Vallée, Thierry Billette, Marie Bourgeois, Christine Ioos, Cyril Gitiaux, Cécile Laroche, Mathieu Milh, Vincent Des Portes, Alexis Arzimanoglou, Agathe Roubertie, the AHC–Movement Disorder Study Group
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Linh Tran, Jason Richards, Marie McDonald, Allyn McConkie‐Rosell, Nicholas Stong, Joan Jasien, Vandana Shashi, Mohamad A. Mikati
First published: 13 March 2020
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Lardinois, Kara L. PT, DPT, C/NDT; Guge, Nora PT, DPT
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Tsutomu Nakashima, Kanji Yasuda, Makoto Kobayashi, Hisayasu Wada, Atsushi Ishii, Shinichi Hirose
2019
An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole
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A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing
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The epileptology of alternating hemiplegia of childhood
View ORCID ProfileJulie Uchitel, Ashley Helseth, Lyndsey Prange, Melissa McLean, Ryan Ghusayni, Monisha Sachdev, Arsen Hunanyan, View ORCID ProfileMohamad A. Mikati
First published September 4, 2019
Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations
Alessandro Capuano, Giacomo Garone, Giuseppe Tiralongo, and Federica Graziola
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Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.
Toustrup-Jensen MS1, Einholm AP, Schack VR, Nielsen HN, Holm R, Sobrido MJ, Andersen JP, Clausen T, Vilsen B.
J Biol Chem. 2014 Feb 7;289(6):3186-97. doi: 10.1074/jbc.M113.543272. Epub 2013 Dec 19.
Attenuation of mania-like behavior in Na(+),K(+)-ATPase α3 mutant mice by prospective therapies for bipolar disorder: melatonin and exercise.
Kirshenbaum GS1, Burgess CR2, Déry N3, Fahnestock M4, Peever JH2, Roder JC5.
Neuroscience. 2014 Feb 28;260:195-204. doi: 10.1016/j.neuroscience.2013.12.011. Epub 2013 Dec 14.
Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood.
Roubergue A1, Philibert B, Gautier A, Kuster A, Markowicz K, de Villemeur TB, Vuillaumier-Barrot S, Nicole S, Roze E, Doummar D.
JIMD Rep. 2014 Feb 16. [Epub ahead of print]
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
Demos MK1, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM; FORGE Canada Consortium
Orphanet J Rare Dis. 2014 Jan 28;9:15. doi: 10.1186/1750-1172-9-15.
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
Sasaki M1, Ishii A, Saito Y, Hirose S.
Mov Disord. 2014 Jan;29(1):153-4. doi: 10.1002/mds.25659. Epub 2013 Sep 30.
Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.
Hoei-Hansen CE1, Dali CÍ2, Lyngbye TJ3, Duno M2, Uldall P4.
Eur J Paediatr Neurol. 2014 Jan;18(1):50-4. doi: 10.1016/j.ejpn.2013.08.007. Epub 2013 Sep. 25.
Asystole in alternating hemiplegia with de novo ATP1A3 mutation.
Novy J1, McWilliams E2, Sisodiya SM3
Eur J Med Genet. 2014 Jan;57(1):37-9. doi: 10.1016/j.ejmg.2013.11.003. Epub 2013 Nov 28.
No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.
Bizec CL1, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot S.
JIMD Rep. 2014;12:115-20. doi: 10.1007/8904_2013_253. Epub 2013 Sep 4.
Zebrafish as a novel model to assess Na+/K(+)-ATPase-related neurological disorders.
Doğanli C1, Oxvig C, Lykke-Hartmann K.
Neurosci Biobehav Rev. 2013 Dec;37(10 Pt 2):2774-87. doi: 10.1016/j.neubiorev.2013.09.013. Epub 2013 Oct 1.
Episodic movement disorders: from phenotype to genotype and back.
Brockmann K.
Curr Neurol Neurosci Rep. 2013 Oct;13(10):379. doi: 10.1007/s11910-013-0379-7.
Caregiver’s burden and psychosocial issues in alternating hemiplegia of childhood.
Save J1, Poncelin D, Auvin S.
Eur J Paediatr Neurol. 2013 Sep;17(5):515-21. doi: 10.1016/j.ejpn.2013.04.002. Epub 2013 May 11.
The multiple faces of the ATP1A3-related dystonic movement disorder.
Roubergue A1, Roze E, Vuillaumier-Barrot S, Fontenille MJ, Méneret A, Vidailhet M, Fontaine B, Doummar D, Philibert B, Riant F, Nicole S.
Mov Disord. 2013 Sep;28(10):1457-9. doi: 10.1002/mds.25396. Epub 2013 Mar 8.