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

Human molecular genetics, 2022-03, Vol.31 (5), p.665-673

2022

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PRRT2: A major cause of infantile epilepsy and other paroxysmal disorders of childhood

Progress in Brain Research, 2014, Vol.213, p.141-158

2014

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A de novo pathogenic variant in MICAL‐1 causes epilepsy with auditory features

Epilepsia open, 2024-06, Vol.9 (3), p.1083-1087

2024

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Lateral temporal lobe epilepsies: Clinical and genetic features

Epilepsia (Copenhagen), 2009-05, Vol.50 (s5), p.52-54

2009

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Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors

PLoS genetics, 2016-10, Vol.12 (10), p.e1006376

2016

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The genetic basis of juvenile myoclonic epilepsy

Lancet neurology, 2018-06, Vol.17 (6), p.493-495

2018

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A computational model of the LGI1 protein suggests a common binding site for ADAM proteins

PloS one, 2011-03, Vol.6 (3), p.e18142-e18142

2011

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Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy

Epilepsia (Copenhagen), 2011-07, Vol.52 (7), p.1258-1264

2011

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A PTG variant contributes to a milder phenotype in Lafora disease

PloS one, 2011-06, Vol.6 (6), p.e21294

2011

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Distribution of the epilepsy-related Lgi1 protein in rat cortical neurons

Histochemistry and cell biology, 2009-11, Vol.132 (5), p.505-513

2009

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Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy

Neurology. Genetics, 2018-06, Vol.4 (3), p.e241-e241

2018

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The LGI1/Epitempin gene encodes two protein isoforms differentially expressed in human brain

Journal of neurochemistry, 2006-08, Vol.98 (3), p.985-991

2006

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Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

American journal of human genetics, 2015-06, Vol.96 (6), p.992-1000

2015

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Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

Expert review of neurotherapeutics, 2020-03, Vol.20 (3), p.251-269

2020

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Telephone‐induced Seizures: A New Type of Reflex Epilepsy

Epilepsia (Copenhagen), 2004-03, Vol.45 (3), p.280-283

2004

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In response: DEPDC5 mutations in epilepsy with auditory features

Epilepsia (Copenhagen), 2016-02, Vol.57 (2), p.336-336

2016

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DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy

Epilepsia (Copenhagen), 2015-10, Vol.56 (10), p.e168-e171

2015

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Mutations in MICAL‐1cause autosomal‐dominant lateral temporal epilepsy

Annals of neurology, 2018-03, Vol.83 (3), p.483-493

2018

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In response: DEPDC 5 mutations in epilepsy with auditory features

Epilepsia (Copenhagen), 2016-02, Vol.57 (2), p.336-336

2016

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Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture

Annals of neurology, 2023-11, Vol.94 (5), p.825-835

2023

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

Epileptic disorders, 2020-08, Vol.22 (4), p.443-448

2020

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LGI1 tumor tissue expression and serum autoantibodies in patients with primary malignant glioma

Clinical neurology and neurosurgery, 2018-07, Vol.170, p.27-33

2018

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LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy

Human mutation, 2009-04, Vol.30 (4), p.530-536

2009

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Idiopathic mesial temporal lobe epilepsy: Don't sow the tares with the wheat

Epilepsy & behavior, 2010-08, Vol.18 (4), p.500-501

2010

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

PRRT2: A major cause of infantile epilepsy and other paroxysmal disorders of childhood

A de novo pathogenic variant in MICAL‐1 causes epilepsy with auditory features

Lateral temporal lobe epilepsies: Clinical and genetic features

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors

The genetic basis of juvenile myoclonic epilepsy

A computational model of the LGI1 protein suggests a common binding site for ADAM proteins

Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy

A PTG variant contributes to a milder phenotype in Lafora disease

Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

Distribution of the epilepsy-related Lgi1 protein in rat cortical neurons

Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy

The LGI1/Epitempin gene encodes two protein isoforms differentially expressed in human brain

Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

Telephone‐induced Seizures: A New Type of Reflex Epilepsy

In response: DEPDC5 mutations in epilepsy with auditory features

DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy

Mutations in MICAL‐1cause autosomal‐dominant lateral temporal epilepsy

In response: DEPDC 5 mutations in epilepsy with auditory features

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture

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

LGI1 tumor tissue expression and serum autoantibodies in patients with primary malignant glioma

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy

Idiopathic mesial temporal lobe epilepsy: Don't sow the tares with the wheat

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