Pathogenic gating pore current conducted by autism-related mutations in the Na(V)1.2 brain sodium channel.
Eltokhi A, Lundstrom BN, Li J, Zweifel LS, Catterall WA, Gamal El-Din TM., Free PMC Article

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
Mao M, Mattei C, Rollo B, Byars S, Cuddy C, Berecki G, Heighway J, Pachernegg S, Menheniott T, Apted D, Jia L, Dalby K, Nemiroff A, Mullen S, Reid CA, Maljevic S, Petrou S., Free PMC Article

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L, I.B.AHC Consortium, IAHCRC Consortium, Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL.,

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap JJ, George AL., Free PMC Article

Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.
Sterlini B, Franchi F, Morinelli L, Corradi B, Parodi C, Albini M, Bianchi A, Marte A, Baldelli P, Alberini G, Maragliano L, Valente P, Benfenati F, Corradi A.

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.
Asadollahi R, Delvendahl I, Muff R, Tan G, Rodríguez DG, Turan S, Russo M, Oneda B, Joset P, Boonsawat P, Masood R, Mocera M, Ivanovski I, Baumer A, Bachmann-Gagescu R, Schlapbach R, Rehrauer H, Steindl K, Begemann A, Reis A, Winkler J, Winner B, Müller M, Rauch A., Free PMC Article

A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels.
Valente P, Marte A, Franchi F, Sterlini B, Casagrande S, Corradi A, Baldelli P, Benfenati F., Free PMC Article

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.
Alghamdi MA, Al-Eitan LN, Asiri A, Rababa'h DM, Alqahtani SA, Aldarami MS, Alsaeedi MA, Almuidh RS, Alzahrani AA, Sakah AH, El Nashar EM, Otaif MY, Abdel Ghaffar NF., Free PMC Article

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G, Howell KB, Heighway J, Olivier N, Rodda J, Overmars I, Vlaskamp DRM, Ware TL, Ardern-Holmes S, Lesca G, Alber M, Veggiotti P, Scheffer IE, Berkovic SF, Wolff M, Petrou S., Free PMC Article

Role of SCN2A c.56G/A Gene Polymorphism in Egyptian Children with Genetic Epilepsy with Febrile Seizure Plus.
Berseem NF, Khattab ESAEH, Saad DS, Abd Elnaby SA.

SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.
Yang XR, Ginjupalli VKM, Theriault O, Poulin H, Appendino JP, Au PYB, Chahine M., Free PMC Article

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
Mangano GD, Fontana A, Antona V, Salpietro V, Mangano GR, Giuffrè M, Nardello R., Free PMC Article

Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M.

[Association of SCN2A, ABCB1 and CYP2C19*3 with genetic susceptibility to major depressive disorder].
Zhang T, Rao QM, He YY, Cai JT, Liu HY, Lin YL.

Generation and basic characterization of a gene-trap knockout mouse model of Scn2a with a substantial reduction of voltage-gated sodium channel Na(v) 1.2 expression.
Eaton M, Zhang J, Ma Z, Park AC, Lietzke E, Romero CM, Liu Y, Coleman ER, Chen X, Xiao T, Que Z, Lai S, Wu J, Lee JH, Palant S, Nguyen HP, Huang Z, Skarnes WC, Koss WA, Yang Y.

[Clinical and genetic spectrum of SCN2A gene associated epilepsy and episodic ataxia].
Guan J, Du KX, Dong Y, Li L, Song PP, Gong H, Zhang XL, Jia TM.

Pharmacological Inhibition of Wee1 Kinase Selectively Modulates the Voltage-Gated Na(+) Channel 1.2 Macromolecular Complex.
Dvorak NM, Tapia CM, Baumgartner TJ, Singh J, Laezza F, Singh AK., Free PMC Article

Properties of Calmodulin Binding to Na(V)1.2 IQ Motif and Its Autism-Associated Mutation R1902C.
Jia W, Liu J, Yu Z, Zhang X, Xu X, Wang Y, Gao Q, Feng R, Wan Y, Xu J, Minobe E, Kameyama M, Wang W, Guo F.

[Autism spectrum disorder/development delay in siblings with SCN2A mutations caused by germline mosaicism].
Zhang P, Gao Z, Jia J, Chen Q.

A De Novo Missense Variant of SCN2A: Implications and Limitations for Understanding Clinical Phenotype and Treatment Recommendations.
Deutsch SI, Burket JA.

Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy.
Ganguly S, Thompson CH, George AL Jr., Free PMC Article

Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children.
Liu M, Mao J, Xu H, Wang J, Zhao P, Xu Q, Du Z.

Epileptic encephalopathy patients with SCN2A variant initiated by neonatal seizure.
Morichi S, Ishida Y, Yamanaka G, Kato M, Kawashima H.

Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
Zhang Y, Wang R, Liu Z, Jiang S, Du L, Qiu K, Li F, Wang Q, Jin J, Chen X, Li Z, Wu J, Zhang N.

The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC.