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Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

Pharmacological reviews, 2018-01, Vol.70 (1), p.142-173

2018

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SCN1A gain of function in early infantile encephalopathy

Annals of neurology, 2019-04, Vol.85 (4), p.514-525

2019

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Spectrum of GABAA receptor variants in epilepsy

Current opinion in neurology, 2019-04, Vol.32 (2), p.183

2019

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Nervous system KV7 disorders: breakdown of a subthreshold brake

The Journal of physiology, 2008-04, Vol.586 (7), p.1791-1801

2008

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Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse

Neurobiology of disease, 2022-03, Vol.164, p.105622-105622, Article 105622

2022

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An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Nav1.2

Stem cell research, 2024-04, Vol.76, p.103367-103367, Article 103367

2024

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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

The Journal of clinical investigation, 2008-06, Vol.118 (6), p.2157-2168

2008

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The New Anticonvulsant Retigabine Favors Voltage-Dependent Opening of the Kv7.2 (KCNQ2) Channel by Binding to Its Activation Gate

Molecular pharmacology, 2005-04, Vol.67 (4), p.1009-1017

2005

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SRF modulates seizure occurrence, activity induced gene transcription and hippocampal circuit reorganization in the mouse pilocarpine epilepsy model

Molecular brain, 2017-07, Vol.10 (1), p.30-30, Article 30

2017

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Using a Multiplex Nucleic Acid in situ Hybridization Technique to Determine HCN4 mRNA Expression in the Adult Rodent Brain

Frontiers in molecular neuroscience, 2019-08, Vol.12, p.211-211

2019

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Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

EBioMedicine, 2022-10, Vol.84, p.104244-104244, Article 104244

2022

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Antisense oligonucleotide therapy for KCNT1 encephalopathy

JCI insight, 2022-12, Vol.7 (23)

2022

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Potassium channel genes and benign familial neonatal epilepsy

Progress in Brain Research, 2014, Vol.213, p.17-53

2014

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Potassium channels: a review of broadening therapeutic possibilities for neurological diseases

Journal of neurology, 2013-09, Vol.260 (9), p.2201-2211

2013

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Zebrafish Bioassay-Guided Microfractionation Identifies Anticonvulsant Steroid Glycosides from the Philippine Medicinal Plant Solanum torvum

ACS chemical neuroscience, 2014-10, Vol.5 (10), p.993-1004

2014

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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Annals of clinical and translational neurology, 2019-07, Vol.6 (7), p.1263-1272

2019

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CLCN2 variants in idiopathic generalized epilepsy

Nature genetics, 2009-09, Vol.41 (9), p.954-955

2009

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Molecular analysis of the A322D mutation in the GABAA receptor α1-subunit causing juvenile myoclonic epilepsy

The European journal of neuroscience, 2005-07, Vol.22 (1), p.10-20

2005

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Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

Pharmacological reviews, 2018-01, Vol.70 (1), p.142-173

2018

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Models for discovery of targeted therapy in genetic epileptic encephalopathies

Journal of neurochemistry, 2017-10, Vol.143 (1), p.30-48

2017

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Subthreshold changes of voltage-dependent activation of the KV7.2 channel in neonatal epilepsy

Neurobiology of disease, 2006-10, Vol.24 (1), p.194-201

2006

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C-terminal interaction of KCNQ2 and KCNQ3 K+ channels

The Journal of physiology, 2003-04, Vol.548 (2), p.353-360

2003

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Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy

Journal of neurochemistry, 2024-03

2024

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Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy

Annals of neurology, 2014-03, Vol.75 (3), p.382-394

2014

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Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

SCN1A gain of function in early infantile encephalopathy

Spectrum of GABAA receptor variants in epilepsy

Nervous system KV7 disorders: breakdown of a subthreshold brake

Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia-Reperfusion Injury

Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse

An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Nav1.2

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

The New Anticonvulsant Retigabine Favors Voltage-Dependent Opening of the Kv7.2 (KCNQ2) Channel by Binding to Its Activation Gate

SRF modulates seizure occurrence, activity induced gene transcription and hippocampal circuit reorganization in the mouse pilocarpine epilepsy model

Using a Multiplex Nucleic Acid in situ Hybridization Technique to Determine HCN4 mRNA Expression in the Adult Rodent Brain

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

Antisense oligonucleotide therapy for KCNT1 encephalopathy

Potassium channel genes and benign familial neonatal epilepsy

Potassium channels: a review of broadening therapeutic possibilities for neurological diseases

Zebrafish Bioassay-Guided Microfractionation Identifies Anticonvulsant Steroid Glycosides from the Philippine Medicinal Plant Solanum torvum

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

CLCN2 variants in idiopathic generalized epilepsy

Molecular analysis of the A322D mutation in the GABAA receptor α1-subunit causing juvenile myoclonic epilepsy

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

Models for discovery of targeted therapy in genetic epileptic encephalopathies

Subthreshold changes of voltage-dependent activation of the KV7.2 channel in neonatal epilepsy

C-terminal interaction of KCNQ2 and KCNQ3 K+ channels

Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy

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