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Publications by K. Imoto
A Missense Mutation of the Na+ Channel II Subunit Gene Nav1.2 in a Patient With Febrile and Afebrile Seizures Causes Channel Dysfunction
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Impact of Mitochondrial Reactive Oxygen Species and Apoptosis Signal-Regulating Kinase 1 on Insulin Signaling
Diabetes
Internal Medicine
Endocrinology
Metabolism
Diabetes
Related publications
Functional and Biochemical Analysis of a Sodium Channel Β1 Subunit Mutation Responsible for Generalized Epilepsy With Febrile Seizures Plus Type 1
Journal of Neuroscience
Neuroscience
Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene
American Journal of Human Genetics
Genetics
A Gain-Of-Function Mutation in the CLCN2 Chloride Channel Gene Causes Primary Aldosteronism
Nature Genetics
Genetics
Hypogonadism in a Patient With a Mutation in the Luteinizing Hormone Beta-Subunit Gene
New England Journal of Medicine
Medicine
The Human Δ1261 Mutation of theHERGPotassium Channel Results in a Truncated Protein That Contains a Subunit Interaction Domain and Decreases the Channel Expression
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Adg2-1 Represents a Missense Mutation in the ADPG Pyrophosphorylase Large Subunit Gene of Arabidopsis Thaliana
Plant Journal
Plant Science
Genetics
Cell Biology
A PQ-Channel Mutation Associated With Epilepsy Alters the Voltage Dependence of Channel Inactivation
Biophysical Journal
Biophysics
A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Nav1.2 Haplodeficiency in Excitatory Neurons Causes Absence-Like Seizures in Mice
Communications Biology
Genetics
Molecular Biology
Biochemistry
Biological Sciences
Medicine
Agricultural
