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Predicting the functional impact of KCNQ1 variants with artificial neural networks

PLoS computational biology, 2022-04, Vol.18 (4), p.e1010038-e1010038

2022

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Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice

Neurobiology of disease, 2014-05, Vol.65, p.1-11

2014

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De novo KCNB1 mutations in epileptic encephalopathy

Annals of neurology, 2014-10, Vol.76 (4), p.529-540

2014

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Upgraded molecular models of the human KCNQ1 potassium channel

PloS one, 2019-09, Vol.14 (9), p.e0220415-e0220415

2019

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Novel SCN3A variants associated with focal epilepsy in children

Neurobiology of disease, 2014-02, Vol.62, p.313-322

2014

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SCN3A deficiency associated with increased seizure susceptibility

Neurobiology of disease, 2017-06, Vol.102, p.38-48

2017

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Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells

The Journal of neuroscience, 2015-04, Vol.35 (17), p.6801-6812

2015

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Independent compartmentalization of functional, metabolic, and transcriptional maturation of hiPSC-derived cardiomyocytes

Cell reports (Cambridge), 2024-05, Vol.43 (5), p.114160-114160, Article 114160

2024

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome

Frontiers in pharmacology, 2020-05, Vol.11, p.550-550

2020

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Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling

The Journal of general physiology, 2013-02, Vol.141 (2), p.193-202

2013

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Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy

eLife, 2021-02, Vol.10

2021

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Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation

eLife, 2020-10, Vol.9

2020

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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

JCI insight, 2022-03, Vol.7 (5)

2022

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Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations

Science advances, 2018-03, Vol.4 (3), p.eaar2631-eaar2631

2018

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Allelic Complexity in Long QT Syndrome: A Family-Case Study

International journal of molecular sciences, 2017-07, Vol.18 (8), p.1633

2017

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Genomic Autopsy of Sudden Deaths in Young Individuals

JAMA cardiology, 2021-11, Vol.6 (11), p.1247

2021

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Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility

Proceedings of the National Academy of Sciences - PNAS, 2011-03, Vol.108 (13), p.5443-5448

2011

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Transient titin-dependent ventricular defects during development lead to adult atrial arrhythmia and impaired contractility

iScience, 2024-07, Vol.27 (7), p.110395, Article 110395

2024

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Noninactivating Voltage-Gated Sodium Channels in Severe Myoclonic Epilepsy of Infancy

Proceedings of the National Academy of Sciences - PNAS, 2004-07, Vol.101 (30), p.11147-11152

2004

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Structural Models for the KCNQ1 Voltage-Gated Potassium Channel

Biochemistry (Easton), 2007-12, Vol.46 (49), p.14141-14152

2007

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Epilepsy-Associated Dysfunction in the Voltage-Gated Neuronal Sodium Channel SCN1A

The Journal of neuroscience, 2003-12, Vol.23 (36), p.11289-11295

2003

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Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy

Annals of clinical and translational neurology, 2019-09, Vol.6 (9), p.1606-1615

2019

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Working model for the structural basis for KCNE1 modulation of the KCNQ1 potassium channel

Current opinion in structural biology, 2011-04, Vol.21 (2), p.283-291

2011

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Selective Targeting of Gain-of-Function KCNQ1 Mutations Predisposing to Atrial Fibrillation

Circulation. Arrhythmia and electrophysiology, 2013-10, Vol.6 (5), p.960-966

2013

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Structural basis for KCNE3 modulation of potassium recycling in epithelia

Science advances, 2016-09, Vol.2 (9), p.e1501228-e1501228

2016

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Predicting the functional impact of KCNQ1 variants with artificial neural networks

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice

De novo KCNB1 mutations in epileptic encephalopathy

Upgraded molecular models of the human KCNQ1 potassium channel

Novel SCN3A variants associated with focal epilepsy in children

SCN3A deficiency associated with increased seizure susceptibility

Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells

Independent compartmentalization of functional, metabolic, and transcriptional maturation of hiPSC-derived cardiomyocytes

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome

Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling

Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy

Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations

Allelic Complexity in Long QT Syndrome: A Family-Case Study

Genomic Autopsy of Sudden Deaths in Young Individuals

Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility

Transient titin-dependent ventricular defects during development lead to adult atrial arrhythmia and impaired contractility

Noninactivating Voltage-Gated Sodium Channels in Severe Myoclonic Epilepsy of Infancy

Structural Models for the KCNQ1 Voltage-Gated Potassium Channel

Epilepsy-Associated Dysfunction in the Voltage-Gated Neuronal Sodium Channel SCN1A

Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy

Working model for the structural basis for KCNE1 modulation of the KCNQ1 potassium channel

Selective Targeting of Gain-of-Function KCNQ1 Mutations Predisposing to Atrial Fibrillation

Structural basis for KCNE3 modulation of potassium recycling in epithelia

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