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Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures

Biological psychiatry (1969), 2017-08, Vol.82 (3), p.224-232

2017

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Severe deficiency of the voltage-gated sodium channel NaV1.2 elevates neuronal excitability in adult mice

Cell reports (Cambridge), 2021-08, Vol.36 (5), p.109495-109495, Article 109495

2021

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Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder

Epilepsy & behavior, 2024-11, Vol.160, p.109975, Article 109975

2024

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Paradoxical hyperexcitability from NaV1.2 sodium channel loss in neocortical pyramidal cells

Cell reports (Cambridge), 2021-08, Vol.36 (5), p.109483-109483, Article 109483

2021

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Gene variant effects across sodium channelopathies predict function and guide precision therapy

Brain (London, England : 1878), 2022-12, Vol.145 (12), p.4275-4286

2022

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The phenotypic spectrum of SCN2A-related epilepsy

European journal of paediatric neurology, 2020-01, Vol.24, p.117-122

2020

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Nichtläsionelle Epilepsie im Kindesalter – Fallstricke in der Diagnostik

Clinical Epileptology, 2023-05, Vol.36 (2), p.154-158

2023

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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1316-1336

2017

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Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

EBioMedicine, 2022-09, Vol.83, p.104234-104234, Article 104234

2022

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Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

Frontiers in genetics, 2022-05, Vol.13

2022

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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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Recent advances in treatment of epilepsy-related sodium channelopathies

European journal of paediatric neurology, 2020-01, Vol.24, p.123-128

2020

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The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex

Neuron (Cambridge, Mass.), 2019-08, Vol.103 (4), p.673-685.e5

2019

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Phenotypic spectrum and genetics of SCN2A‐related disorders, treatment options, and outcomes in epilepsy and beyond

Epilepsia (Copenhagen), 2019-12, Vol.60 (S3), p.S59-S67

2019

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Drug–drug and drug–food interactions in an infant with early‐onset SCN2A epilepsy treated with carbamazepine, phenytoin and a ketogenic diet

British journal of clinical pharmacology, 2021-03, Vol.87 (3), p.1568-1573

2021

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'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies

Trends in pharmacological sciences (Regular ed.), 2022-05, Vol.43 (5), p.392-405

2022

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SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?

Molecular autism, 2020-04, Vol.11 (1), p.23-23, Article 23

2020

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SCN2A -related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects

Journal of neurophysiology, 2022-05, Vol.127 (5), p.1388-1397

2022

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SCN2A and arrhythmia: A potential correlation? A case report and literature review

European journal of medical genetics, 2022-12, Vol.65 (12), p.104639-104639, Article 104639

2022

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Lack of association of SCN2A rs17183814 polymorphism with the efficacy of lamotrigine monotherapy in patients with focal epilepsy from Herzegovina area, Bosnia and Herzegovina

Epilepsy research, 2019-12, Vol.158, p.106221-106221, Article 106221

2019

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SCN2A and Its Related Epileptic Phenotypes

Journal of pediatric neurology, 2023-06, Vol.21 (3), p.173-185

2023

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Relationship of electrophysiological dysfunction and clinical severity in SCN2A‐related epilepsies

Human mutation, 2018-12, Vol.39 (12), p.1942-1956

2018

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Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy

Proceedings of the National Academy of Sciences - PNAS, 2018-06, Vol.115 (24), p.E5516-E5525

2018

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Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant

The Journal of neuroscience, 2021-12, Vol.41 (49), p.10194-10208

2021

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Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy

Journal of neurology, 2024-05, Vol.271 (5), p.2503-2508

2024

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Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures

Severe deficiency of the voltage-gated sodium channel NaV1.2 elevates neuronal excitability in adult mice

Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder

Paradoxical hyperexcitability from NaV1.2 sodium channel loss in neocortical pyramidal cells

Gene variant effects across sodium channelopathies predict function and guide precision therapy

The phenotypic spectrum of SCN2A-related epilepsy

Nichtläsionelle Epilepsie im Kindesalter – Fallstricke in der Diagnostik

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

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

Recent advances in treatment of epilepsy-related sodium channelopathies

The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex

Phenotypic spectrum and genetics of SCN2A‐related disorders, treatment options, and outcomes in epilepsy and beyond

Drug–drug and drug–food interactions in an infant with early‐onset SCN2A epilepsy treated with carbamazepine, phenytoin and a ketogenic diet

'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies

SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?

SCN2A -related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects

SCN2A and arrhythmia: A potential correlation? A case report and literature review

Lack of association of SCN2A rs17183814 polymorphism with the efficacy of lamotrigine monotherapy in patients with focal epilepsy from Herzegovina area, Bosnia and Herzegovina

SCN2A and Its Related Epileptic Phenotypes

Relationship of electrophysiological dysfunction and clinical severity in SCN2A‐related epilepsies

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy

Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant

Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy

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