Discover open access scientific publications

Search, annotate, share and cite publications

Publications by H. Nagafuji

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

2001

English

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

2002

English

Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene

American Journal of Human Genetics

Genetics

1997

English

A Gain-Of-Function Mutation in the CLCN2 Chloride Channel Gene Causes Primary Aldosteronism

Nature Genetics

Genetics

2018

English

Hypogonadism in a Patient With a Mutation in the Luteinizing Hormone Beta-Subunit Gene

New England Journal of Medicine

Medicine

2004

English

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

English

Adg2-1 Represents a Missense Mutation in the ADPG Pyrophosphorylase Large Subunit Gene of Arabidopsis Thaliana

English

A PQ-Channel Mutation Associated With Epilepsy Alters the Voltage Dependence of Channel Inactivation

Biophysical Journal

Biophysics

2015

English

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation

English

Nav1.2 Haplodeficiency in Excitatory Neurons Causes Absence-Like Seizures in Mice

Communications Biology

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by H. Nagafuji

A Missense Mutation of the Na+ Channel II Subunit Gene Nav1.2 in a Patient With Febrile and Afebrile Seizures Causes Channel Dysfunction

Related publications

Functional and Biochemical Analysis of a Sodium Channel Β1 Subunit Mutation Responsible for Generalized Epilepsy With Febrile Seizures Plus Type 1

Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene

A Gain-Of-Function Mutation in the CLCN2 Chloride Channel Gene Causes Primary Aldosteronism

Hypogonadism in a Patient With a Mutation in the Luteinizing Hormone Beta-Subunit Gene

The Human Δ1261 Mutation of theHERGPotassium Channel Results in a Truncated Protein That Contains a Subunit Interaction Domain and Decreases the Channel Expression

Adg2-1 Represents a Missense Mutation in the ADPG Pyrophosphorylase Large Subunit Gene of Arabidopsis Thaliana

A PQ-Channel Mutation Associated With Epilepsy Alters the Voltage Dependence of Channel Inactivation

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Nav1.2 Haplodeficiency in Excitatory Neurons Causes Absence-Like Seizures in Mice