Sho T. Yano

Pediatric Neurology | Pediatrics | Neurology

5841 S Maryland Ave
Chicago, IL 60637

Last Updated: 09/26/2026

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Found 20 publications

Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy.

Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy.

Journal: Epilepsy currents

Published: February 23, 2026

On the mechanism of hypomagnesemia with treatment-resistant seizures caused by variants of the Na+,K+-ATPase α1 subunit (ATP1A1).

On the mechanism of hypomagnesemia with treatment-resistant seizures caused by variants of the Na+,K+-ATPase α1 subunit (ATP1A1).

Journal: The Journal of general physiology

Published: December 22, 2025

Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function.

Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function.

Journal: Neurology. Genetics

Published: April 16, 2025

Favorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy.

Favorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy.

Journal: Epilepsy & behavior reports

Published: October 22, 2024

Eye closure sensitivity as a novel EEG marker of MERRF.

Eye closure sensitivity as a novel EEG marker of MERRF.

Journal: Epilepsia open

Published: April 30, 2024

ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.

ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.

Journal: Neurology. Genetics

Published: October 20, 2023

Categorizing Monogenic Epilepsies by Genetic Mechanisms May Predict Efficacy of the Ketogenic Diet.

Categorizing Monogenic Epilepsies by Genetic Mechanisms May Predict Efficacy of the Ketogenic Diet.

Journal: Pediatric neurology

Published: October 06, 2023

Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).

Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).

Journal: Genetics in medicine open

Published: August 30, 2023

ATP1A1 -linked diseases require a malfunctioning protein product from one allele.

ATP1A1 -linked diseases require a malfunctioning protein product from one allele.

Journal: bioRxiv : the preprint server for biology

Published: April 24, 2023

ATP1A1-linked diseases require a malfunctioning protein product from one allele.

ATP1A1-linked diseases require a malfunctioning protein product from one allele.

Journal: Biochimica et biophysica acta. Molecular cell research

Published: February 28, 2023

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Journal: Brain : a journal of neurology

Published: August 29, 2022

Disease mutations of human α3 Na+/K+-ATPase define extracellular Na+ binding/occlusion kinetics at ion binding site III.

Disease mutations of human α3 Na+/K+-ATPase define extracellular Na+ binding/occlusion kinetics at ion binding site III.

Journal: PNAS nexus

Published: May 03, 2022

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Last Updated: 09/26/2026