SCN2A

Diseases

• Epilepsy5 trials

The last 24 months

New trials, publications, preprints and grants on this target, month by month.

TrialsPublicationsPreprintsGrants

• Publication

  Targeted gene therapy alleviates epilepsy and hyperexcitability in models of SCN2A deficiency.

  3 Nov 2026· The Journal of clinical investigation· PUBMED

• Publication

  Drug-Refractory Dystonia: Benefits of Lamotrigine Therapy in a Case of SCN2A Epilepsy-Dyskinesia Syndrome.

  8 Oct 2026· Movement disorders clinical practice· PUBMED

• Publication

  Altered oligodendroglial cell development and increased myelination in SCN2A gain-of-function-linked epilepsy.

  7 Oct 2026· Acta neuropathologica communications· PUBMED

• Publication

  Autism-associated SCN2A deficiency disrupts cortico-striatal circuitry in human brain assembloids.

  30 Sept 2026· Neuron· PUBMED

• Publication

  Response to Electroconvulsive Therapy in a Patient With SCN2A-Variant Catatonia Is Associated With Postictal Spreading Depolarization.

  22 Sept 2026· The journal of ECT· PUBMED

• Publication

  Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

  18 Sept 2026· Neurology· PUBMED

• Preprint

  Developmental Cerebellar Pathology in Mouse Models of SCN2A Premature Termination Codon Variants.

  17 Sept 2026· bioRxiv : the preprint server for biology· PUBMED

• Publication

  Lvguidingan inhibits Nav1.2 and epilepsy-associated SCN2A gain-of-function variants.

  15 Sept 2026· Acta pharmacologica Sinica· PUBMED

• Publication

  Functional and pharmacological characterization of the SCN2A variant p.C258R with mixed gain and loss of function causing developmental and epileptic encephalopathy type 11.

  11 Sept 2026· Epilepsy & behavior reports· PUBMED

• Preprint

  Elevated neuronal excitability and seizure susceptibility in a mouse model of SCN2A -related developmental and epileptic encephalopathy.

  3 Sept 2026· bioRxiv : the preprint server for biology· PUBMED

• Publication

  Letter to the Editor on "Expanding the Phenotypic Spectrum of SCN2A: Generalized Dystonia without Epilepsy or Encephalopathy".

  22 Aug 2026· Movement disorders clinical practice· PUBMED

• Publication

  Reply: "Letter to the Editor on 'Expanding the Phenotypic Spectrum of SCN2A: Generalized Dystonia without Epilepsy or Encephalopathy'".

  22 Aug 2026· Movement disorders clinical practice· PUBMED

• Publication

  [Electroclinical recognition of SCN2A, SCN8A, KCNQ2, and KCNQ3 pathogenic variants].

  1 Aug 2026· Medicina· PUBMED

• Publication

  Epilepsy-associated SCN2A-L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids.

  30 Jul 2026· Epilepsia· PUBMED

• Publication

  Nonsense-mediated decay influences position-dependent effects of SCN2A premature stop codons on neuronal excitability and behavior.

  6 Jul 2026· Molecular psychiatry· PUBMED

• Publication

  Subcortical Dendritic Scaffolding in Autism Spectrum Disorder: A Testable ANK2-SCN2A-SHANK Framework.

  3 Jul 2026· International journal of molecular sciences· PUBMED

• Publication

  Therapeutic drug monitoring of lacosamide as add-on treatment in a neonate with therapy-resistant epilepsy due to SCN2A mutation: a case report.

  18 Jun 2026· Journal of medical case reports· PUBMED

• Publication

  Association of SCN1A and SCN2A Gene Polymorphisms with Antiseizure Medication Responsiveness: A Case-Control Study from Eastern India.

  10 Apr 2026· Annals of Indian Academy of Neurology· PUBMED

• Publication

  Autism Spectrum Disorder Caused by a Novel De Novo SCN2A Mutation: A Case Report.

  1 Apr 2026· International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· PUBMED

• Publication

  SCN2A variants are associated with familial and sporadic hemiplegic migraine.

  26 Mar 2026· Brain : a journal of neurology· PUBMED

• Publication

  Human microglia in brain assembloids display region-specific diversity and respond to hyperexcitable neurons carrying SCN2A mutation.

  18 Feb 2026· Science advances· PUBMED

• Publication

  Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

  5 Feb 2026· Epilepsia· PUBMED

• Publication

  Case Report: Prenatal imaging and genetic integrated diagnosis of SCN2A encephalopathy-a case of cryptical cortical dysplasia caused by a loss-of-function frameshift genetic variant.

  4 Feb 2026· Frontiers in neuroscience· PUBMED

• Publication

  Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.

  2 Feb 2026· Neurology. Genetics· PUBMED

• Publication

  [Clinical heterogeneity and prediction complexity associated with nucleotide sequence abnormalities in the SCN2A gene].

  1 Jan 2026· Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova· PUBMED

• Publication

  Expanding the Phenotypic Spectrum of SCN2A: Generalized Dystonia without Epilepsy or Encephalopathy.

  26 Nov 2025· Movement disorders clinical practice· PUBMED

• Trial

  A Clinical Trial of Elsunersen in Pediatric SCN2A-DEE to Assess Efficacy and Safety

  13 Aug 2025· PHASE3 · RECRUITING· CTGOV

• Publication

  The DEC2-SCN2A Axis is Essential for the Anticonvulsant Effects of Cannabidiol by Modulating Neuronal Plasticity.

  11 Jul 2025· Advanced science (Weinheim, Baden-Wurttemberg, Germany)· PUBMED

• Trial

  SCN2A Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Population(Pakistan)

  5 Nov 2024· NA · COMPLETED· CTGOV

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