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Last Updated: 10/31/2025

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Found 83 publications

A heterozygous pathogenic RELN variant in autosomal dominant lateral temporal epilepsy.

A heterozygous pathogenic RELN variant in autosomal dominant lateral temporal epilepsy.

Journal: Seizure
Published: December 27, 2024

Identification of autosomal dominant lateral temporal epilepsy caused by a novel mutation in RELN in China: a case report.

Identification of autosomal dominant lateral temporal epilepsy caused by a novel mutation in RELN in China: a case report.

Journal: Acta epileptologica
Published: March 12, 2024

The downregulation of Kv1 channels in Lgi1-/-mice is accompanied by a profound modification of its interactome and a parallel decrease in Kv2 channels.

The downregulation of Kv1 channels in Lgi1-/-mice is accompanied by a profound modification of its interactome and a parallel decrease in Kv2 channels.

Journal: Neurobiology of disease
Published: November 08, 2023

Rescue of Normal Excitability in LGI1-Deficient Epileptic Neurons.

Rescue of Normal Excitability in LGI1-Deficient Epileptic Neurons.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: April 19, 2023

Imbalance of glutamatergic and GABAergic neurotransmission in audiogenic seizure-susceptible Leucine-rich glioma-inactivated 1 (Lgi1)-mutant rats.

Imbalance of glutamatergic and GABAergic neurotransmission in audiogenic seizure-susceptible Leucine-rich glioma-inactivated 1 (Lgi1)-mutant rats.

Journal: Heliyon
Published: December 28, 2022

MICAL1 Monooxygenase in Autosomal Dominant Lateral Temporal Epilepsy: Role in Cytoskeletal Regulation and Relation to Cancer.

MICAL1 Monooxygenase in Autosomal Dominant Lateral Temporal Epilepsy: Role in Cytoskeletal Regulation and Relation to Cancer.

Journal: Genes
Published: March 18, 2022

Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene.

Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene.

Journal: Neuroscience letters
Published: February 13, 2022

The LGI1 protein: molecular structure, physiological functions and disruption-related seizures.

The LGI1 protein: molecular structure, physiological functions and disruption-related seizures.

Journal: Cellular and molecular life sciences : CMLS
Published: August 31, 2021

Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins.

Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins.

Journal: Human molecular genetics
Published: August 06, 2021

A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.

A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.

Journal: CNS neuroscience & therapeutics
Published: January 15, 2021

Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation.

Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation.

Journal: Epileptic disorders : international epilepsy journal with videotape
Published: July 30, 2020

Insights into the mechanisms of epilepsy from structural biology of LGI1-ADAM22.

Insights into the mechanisms of epilepsy from structural biology of LGI1-ADAM22.

Journal: Cellular and molecular life sciences : CMLS
Published: May 20, 2019
Showing 1-12 of 83

Last Updated: 10/31/2025