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Results for

""NAV1.2 Voltage-Gated Sodium Channel""[mesh_terms]

34 Results

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Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021.

Corinna Filippi, Giuseppe Milito, Patrizia Accorsi, Alice Muda, Elisa Maria Fazzi, Paola Martelli, Antonella Riva, Lucio Giordano

Clinical neurology and neurosurgery 2023;234():107983

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

Markus Wolff, Andreas Brunklaus, Sameer M Zuberi

Epilepsia 2020;60 Suppl 3():S59-S67

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Abstract

SCN2A channelopathies: Mechanisms and models.

Ulrike B S Hedrich, Stephan Lauxmann, Holger Lerche

Epilepsia 2020;60 Suppl 3():S68-S76

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Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.

Bruno Sterlini, Francesca Franchi, Lisastella Morinelli, Beatrice Corradi, Chiara Parodi, Martina Albini, Alessandra Bianchi, Antonella Marte, Pietro Baldelli, Giulio Alberini, Luca Maragliano, Pierluigi Valente, Fabio Benfenati, Anna Corradi

Neurobiology of disease 2023;183():106177

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Neurologist's Black Swan: Molecular Basis of Prenatal Seizures.

Angelina O Kustova, Alexandra D Medyanik, Polina E Anisimova, Victor S Tarabykin, Elena V Kondakova

International journal of molecular sciences 2026;27(1):

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Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

Christopher H Thompson, Franck Potet, Tatiana V Abramova, Jean-Marc DeKeyser, Nora F Ghabra, Carlos G Vanoye, John J Millichap, Alfred L George

The Journal of general physiology 2023;155(10):e202313375

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Genetic polymorphisms in SCN2A are not associated with epilepsy risk and AEDs response: evidence from a meta-analysis.

Ruiqing Yang, Ruiyi Qian, Kerun Chen, Wei Yi, Xiutian Sima

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021;42(7):2705-2711

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The phenotypic spectrum of SCN2A-related epilepsy.

Claire Reynolds, Mary D King, Kathleen M Gorman

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020;24():117-122

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Axonal expression of sodium channels and neuropathology of the plaques in multiple sclerosis.

Adel Bouafia, Jean-Louis Golmard, Valerie Thuries, Veronique Sazdovitch, Jean Jacques Hauw, Betrand Fontaine, Danielle Seilhean

Neuropathology and applied neurobiology 2015;40(5):579-90

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A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels.

Pierluigi Valente, Antonella Marte, Francesca Franchi, Bruno Sterlini, Silvia Casagrande, Anna Corradi, Pietro Baldelli, Fabio Benfenati

Molecular neurobiology 2023;60(3):1281-1296

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Integration of biological/pathophysiological contexts to help clarify genotype-phenotype mismatches in monogenetic diseases. Childhood epilepsies associated with SCN2A as a case study.

Raymond J Winquist, Charles J Cohen

Biochemical pharmacology 2019;151():252-262

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Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Anna-Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A Veltman, Gabriele Gillessen-Kaesbach, Alexander Hoischen, Katja Lohmann

Epilepsia 2014;55(4):e25-9

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Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.

Chiara Conti, Alice Muda, Lucio Giordano, Patrizia Accorsi, Stefano Gazzina, Sara Brunetti

American journal of medical genetics. Part A 2024;194(11):e63813

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Episodic Ataxias: Faux or Real?

Paola Giunti, Elide Mantuano, Marina Frontali

International journal of molecular sciences 2021;21(18):6472

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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Eleni Panagiotakaki, Francesco D Tiziano, Mohamad A Mikati, Lisanne S Vijfhuizen, Sophie Nicole, Gaetan Lesca, Emanuela Abiusi, Agnese Novelli, Lorena Di Pietro, Aster V E Harder, Nicole M Walley, Elisa De Grandis, Anne-Lise Poulat, Vincent Des Portes, Anne Lépine, Marie-Cecile Nassogne, Alexis Arzimanoglou, Rosaria Vavassori, Jan Koenderink, Christopher H Thompson, Alfred L George, Fiorella Gurrieri, Arn M J M van den Maagdenberg, Erin L Heinzen

European journal of human genetics : EJHG 2024;32(2):224-231

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Results: 1 – 15 / 34

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Results for ""NAV1.2 Voltage-Gated Sodium Channel""[mesh_terms]

Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021.

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

SCN2A channelopathies: Mechanisms and models.

Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.

Neurologist's Black Swan: Molecular Basis of Prenatal Seizures.

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

Genetic polymorphisms in SCN2A are not associated with epilepsy risk and AEDs response: evidence from a meta-analysis.

The phenotypic spectrum of SCN2A-related epilepsy.

Axonal expression of sodium channels and neuropathology of the plaques in multiple sclerosis.

A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels.

Integration of biological/pathophysiological contexts to help clarify genotype-phenotype mismatches in monogenetic diseases. Childhood epilepsies associated with SCN2A as a case study.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.

Episodic Ataxias: Faux or Real?

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Results for

""NAV1.2 Voltage-Gated Sodium Channel""[mesh_terms]