Sho Yano

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. Epilepsy Behav Rep. 2025 Mar; 29:100740.
PMID: 39834654

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. Pediatr Neurol. 2024 Nov; 160:11-17.
PMID: 39173306

Eye closure sensitivity as a novel EEG marker of MERRF.
Eye closure sensitivity as a novel EEG marker of MERRF. Epilepsia Open. 2024 Oct; 9(5):2000-2002.
PMID: 38970622

ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever. Neurol Genet. 2024 Jun; 10(3):e200150.
PMID: 38685976

ATP1A1-linked diseases require a malfunctioning protein product from one allele.
ATP1A1-linked diseases require a malfunctioning protein product from one allele. Biochim Biophys Acta Mol Cell Res. 2024 01; 1871(1):119572.
PMID: 37659504

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171.
PMID: 37043503

ATP1A1 -linked diseases require a malfunctioning protein product from one allele.
ATP1A1 -linked diseases require a malfunctioning protein product from one allele. bioRxiv. 2023 Mar 05.
PMID: 37090550

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes. Genes (Basel). 2021 10 22; 12(11).
PMID: 34828275

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. Pediatr Neurol. 2017 Aug; 73:101-105.
PMID: 28647130

Buzz Juice: Neurological sequelae of synthetic cannabinoids.
Buzz Juice: Neurological sequelae of synthetic cannabinoids. J Clin Neurosci. 2017 Mar; 37:43.
PMID: 27865819