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. Epilepsy Curr. 2026 Feb 19; 15357597251410840.
PMID: 41726570
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
Effect of oral health on functional disability and mortality in older adults in Japan: a cohort study.
Effect of oral health on functional disability and mortality in older adults in Japan: a cohort study. Lancet Healthy Longev. 2024 11; 5(11):100636.
PMID: 39427678
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
Associations between dairy consumption and the physical function in Japanese community-dwelling older adults: The Shimane CoHRE study.
Associations between dairy consumption and the physical function in Japanese community-dwelling older adults: The Shimane CoHRE study. Geriatr Nurs. 2023 Sep-Oct; 53:19-24.
PMID: 37406501
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