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SCN2A

Publications

Heron SE et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet, 2002; 360(9336): 851-2. PMID: 12243921.

Berkovic SF et al. Benign familial neonatal-infantile seizures: characterisation of a new sodium channelopathy. Ann Neurol, 2004: 55(4):550-557. PMID: 15048894.

Oliva M et al. Sodium channels and the neurobiology of epilepsy. Epilepsia, 2012; 53(11): 1849-1859. PMID: 22905747.

Carvill GL et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet, 2013; 45(7): 825-830. PMID: 23708187.

Nakamura K et al. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology, 2013; 81(11): 992-998. PMID: 23935176.

Howell KB et al. SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology, 2015;85:958-966. PMID: 25982755.

Ben-Shalom R et al. Opposing effects on Nav1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures. Biol Psychiatry, 2017; 82(3): 224-232. PMID: 28256214.

Stessman HA et al. Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases. Nat Genet, 2017; 49(4): 515-526. PMID: 28191889.

Wolff M et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 2017; 140(5): 1316-1336. PMID: 28379373.

Schwarz N et al. Clinical and genetic spectrum of SCN2A-associated episodic ataxia. Eur J Paed Neurol, 2019; 10.1016/j.ejpn.2019.03.001 (Epub ahead of print). PMID: 30928199.

Berecki G et al. Dynamic clamp modelling predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. Proc Nat Acad Sci, 2018;115(24):E5516-E5525. PMID: 29844171.

Lauxmann S et al. Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. Hum Mutat, 2018; 39(12): 1942-1956. PMID 30144217.

Myers CT et al. Parental Mosaicism in ’De novo’ epileptic encephalopathies. N Engl J Med, 2018; 378(17): 1646-1648. PMID: 29694806.