Results 111 to 120 of about 165,991,670 (135)

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood. [PDF]

Mol Genet Metab Rep, 2020
Gropman A, Uittenbogaard M, Brantner CA, Wang Y, Wong LJ, Chiaramello A.   +5 more
europepmc   +1 more source

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. [PDF]

Eur J Hum Genet
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L, I.B.AHC Consortium, IAHCRC Consortium, Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL.   +25 more
europepmc   +1 more source

ATP1A3 mosaicism in families with alternating hemiplegia of childhood. [PDF]

Clin Genet, 2019
Yang X, Yang X, Chen J, Li S, Zeng Q, Huang AY, Ye AY, Yu Z, Wang S, Jiang Y, Wu X, Wu Q, Wei L, Zhang Y.   +13 more
europepmc   +1 more source

Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood. [PDF]

J Clin Sleep Med, 2019
Kansagra S, Ghusayni R, Kherallah B, Gunduz T, McLean M, Prange L, Kravitz RM, Mikati MA.   +7 more
europepmc   +1 more source

Alternating hemiplegia of childhood: Clinical case and video description. [PDF]

Neurol Clin Pract, 2017
Au K, Pringsheim T.
europepmc   +1 more source

Progressive Brain Atrophy in Alternating Hemiplegia of Childhood. [PDF]

Mov Disord Clin Pract, 2017
Sasaki M, Ishii A, Saito Y, Hirose S.
europepmc   +1 more source

[Diagnosis of alternating hemiplegia of childhood]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2017
Luo R.
europepmc   +1 more source

Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy. [PDF]

J Neurosci Rural Pract, 2016
Incecık F, Herguner OM.
europepmc   +1 more source

[Alternating hemiplegia of childhood and epilepsy in an infant]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2017
Chen H, Liu P, Hu WG, Deng J, Wang YJ.
europepmc   +1 more source

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype [PDF]

Brain, 2015
Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use the term 'alternating hemiplegia'.
Nardo Nardocci, Claudio Zucca, Cyrus Boelman   +2 more
exaly   +2 more sources