Alternating Hemiplegia and Paroxysmal Torticollis Caused by SCN4A Mutation: A New Phenotype?

Duan BC, Wong LC, Lee WT. “Alternating Hemiplegia and Paroxysmal Torticollis Caused by SCN4A Mutation: A New Phenotype?” Neurology. 2019 Oct 8;93(15):673-674. No abstract.

Heinzen 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 KJ, van den Maagdenberg A, Vilsen B, ATP1A3 Working Group. “Distinct Neurological Disorders with ATP1A3 Mutations.” Lancet Neurol. 13, no. 5 (May 2014): 503-14.

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.

Hoei-Hansen CE, Dali C, Lyngbye TJ, Duno M, Uldall P. “Alternating Hemiplegia of Childhood in Denmark: Clinical Manifestations and ATP1A3 Mutation Status.” European Journal of Paediatric Neurology (September 25, 2013).

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, et al. “Mosaicism in ATP1A3-Related Disorders: Not Just a Theoretical Risk.” Neurogenetics (October 10, 2016).

Ikeda K, et al. “Enhanced Inhibitory Neurotransmission in the Cerebellar Cortex of the Atp1a3-deficient Heterozygous Mice.” J Physiol. (May 13, 2013).

Inui T, Saito Y, Sakuma H, et al. “Profiles of Blood Biomarkers in Alternating Hemiplegia of Childhood—Increased MMP-9 and Decreased Substance P Indicates its Pathophysiology.” Brain & Development 34, no. 3, (March 2012): 196-200.

Ishi A, Saito Y, Mitsui J, et al. “Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients.” PLos ONE 8, no. 2, (February 2013).

Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. “Mutation in the Glutamate Transporter EAAT1 Causes Episodic Ataxia, Hemiplegia, and Seizures.” Neurology.65, no.4 (August 23, 2005): 529-534.

Jian W, Ma L, Du B, Chi Z, Zeng Q, Shan P. “Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions.” Neuropediatrics 45, no. 3 (June 2014):162-168.