On the mechanism of hypomagnesemia with treatment-resistant seizures caused by variants of the Na+,K+-ATPase a1 subunit (ATP1A1).
On the mechanism of hypomagnesemia with treatment-resistant seizures caused by variants of the Na+,K+-ATPase a1 subunit (ATP1A1). J Gen Physiol. 2026 Sep 07; 158(5).
PMID: 42377349
Association between masticatory performance changes and functional disability and mortality risk in older adults: a retrospective cohort study.
Association between masticatory performance changes and functional disability and mortality risk in older adults: a retrospective cohort study. Arch Gerontol Geriatr. 2026 11; 150:106335.
PMID: 42308750
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
Association of the Recurrent ATP1A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function.
Association of the Recurrent ATP1A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function. Neurol Genet. 2025 Oct; 11(5):e200309.
PMID: 41048924
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