De novo mutations of voltage-gated sodium channel α II gene SCN2A in intractable epilepsies

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

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Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

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Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation

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Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

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The spectrum of SCN1A-related infantile epileptic encephalopathies

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Sodium channel mutations in epilepsy and other neurological disorders

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Sodium-channel defects in benign familial neonatal-infantile seizures

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A missense mutation of the Na + channel α II subunit gene Na v 1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

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SCN1A mutations and epilepsy

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Genetic Biomarkers in Epilepsy

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Na+channelopathies and epilepsy: recent advances and new perspectives

Marini, C., & Mantegazza, M. (2010) · Expert Review of Clinical Pharmacology · doi:10.1586/ecp.10.20 · Cited by 26

A genetic diagnostic approach to infantile epileptic encephalopathies

Kamien, B., Cardamone, M., Lawson, J. A., & Sachdev, R. (2012) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2012.01.017 · Cited by 25

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet

Wong, V. C. N., Fung, C., & Kwong, A. K. (2014) · Brain and Development · doi:10.1016/j.braindev.2014.10.008 · Cited by 25

Mechanisms underlying epilepsies associated with sodium channel mutations

Steinlein, O. K. (2014) · Progress in brain research · doi:10.1016/b978-0-444-63326-2.00005-3 · Cited by 26

Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy

Ganguly, S., Thompson, C. H., & George, A. L. (2021) · The Journal of Physiology · doi:10.1113/jp281834 · Cited by 24

Next-Generation Sequencing in Intellectual Disability

Carvill, G. L., & Mefford, H. C. (2015) · Journal of Pediatric Genetics · doi:10.1055/s-0035-1564439 · Cited by 26

Mutations of Voltage-Gated Sodium Channel Genes SCN1A and SCN2A in Epilepsy, Intellectual Disability, and Autism

Yamakawa, K. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00015-7 · Cited by 23

Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice

Blažeković, A., Gotovac, K., Meglaj, S., Đuranović, V., Prpić, I., Lozić, B., Malenica, M., Markovic, S., Lujić, L., Gadže, Ž. P., et al. (2022) · Genes · doi:10.3390/genes13081466 · Cited by 23

Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

Buers, I., Persico, I., Schöning, L., Nitschke, Y., Rocco, M. D., Loi, A., Sahi, P. K., Ütine, G. E., Bayraktar, B. T., Zampino, G., et al. (2019) · Clinical Genetics · doi:10.1111/cge.13639 · Cited by 21

Epilepsy: Old Syndromes, New Genes

Weckhuysen, S., & Korff, C. M. (2014) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-014-0447-7 · Cited by 21

Ca2+-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors

Mahling, R. W., Rahlf, C. R., Hansen, S. C., Hayden, M. R., & Shea, M. A. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100458 · Cited by 20

Animal toxins for channelopathy treatment

Kozlov, S. A. (2017) · Neuropharmacology · doi:10.1016/j.neuropharm.2017.10.031 · Cited by 21

Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels

Miceli, F., Soldovieri, M. V., Ambrosino, P., Maria, M. D., Manocchio, L., Medoro, A., & Taglialatela, M. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00259 · Cited by 20

Genetics update: Monogenetics, polygene disorders and the quest for modifying genes

Symonds, J. D., & Zuberi, S. M. (2017) · Neuropharmacology · doi:10.1016/j.neuropharm.2017.10.013 · Cited by 19

Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy

Miao, P., Tang, S., Ye, J., Wang, J., Lou, Y., Zhang, B., Xu, X., Chen, X., Li, Y., & Feng, J. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1250 · Cited by 19

Epilepsy genetics: The ongoing revolution

Lesca, G., & Depienne, C. (2015) · Revue Neurologique · doi:10.1016/j.neurol.2015.01.569 · Cited by 19

Copy number variation in a hospital‐based cohort of children with epilepsy

Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L., Dijkhuizen, T., Brouwer, O. F., & van Ravenswaaij‐Arts, C. M. A. (2017) · Epilepsia Open · doi:10.1002/epi4.12057 · Cited by 19

Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice

Gonsales, M. C., Montenegro, M. A., Soler, C. V., Coan, A. C., Guerreiro, M. M., & Lopes‐Cendes, Í. (2015) · Arquivos de Neuro-Psiquiatria · doi:10.1590/0004-282x20150122 · Cited by 18

Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review

AlSaif, S. A., Umair, M., & Alfadhel, M. (2019) · Journal of Central Nervous System Disease · doi:10.1177/1179573519849938 · Cited by 17

Pharmacological determination of the fractional block of Nav channels required to impair neuronal excitability and ex vivo seizures

Thouta, S., Waldbrook, M., Lin, S., Mahadevan, A., Mezeyova, J., Soriano, M., Versi, P., Goodchild, S. J., & Parrish, R. R. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2022.964691 · Cited by 15

Potential induction of epileptic spasms by nonselective voltage-gated sodium channel blockade: Interaction with etiology

Hussain, S. A., Heesch, J., Weng, J. K., Rajaraman, R. R., Numis, A. L., & Sankar, R. (2020) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107624 · Cited by 16

Genetics of human epilepsies: Continuing progress

Szepetowski, P. (2017) · La Presse Médicale · doi:10.1016/j.lpm.2017.10.020 · Cited by 16

Etiology of Autism Spectrum Disorder: A Genomics Perspective

Connolly, J. J., & Hakonarson, H. H. (2014) · Current Psychiatry Reports · doi:10.1007/s11920-014-0501-9 · Cited by 18

Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures

Celle, M. E., Cuoco, C., Porta, S., Gimelli, G., & Tassano, E. (2013) · Gene · doi:10.1016/j.gene.2013.09.073 · Cited by 14

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report

Nickel, K., van Elst, L. T., Domschke, K., Gläser, B., Stock, F., Endres, D., Maier, S. J., & Riedel, A. (2018) · BMC Psychiatry · doi:10.1186/s12888-018-1822-8 · Cited by 14

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses

Angius, A., Uva, P., Oppo, M., Buers, I., Persico, I., Onano, S., Cuccuru, G., Allen, M. I. V., Hulait, G., Aubertin, G., et al. (2019) · Clinical Genetics · doi:10.1111/cge.13532 · Cited by 14

NaV1.2 EFL domain allosterically enhances Ca2+ binding to sites I and II of WT and pathogenic calmodulin mutants bound to the channel CTD

Mahling, R. W., Hovey, L., Isbell, H. M., Marx, D. C., Miller, M. S., Kilpatrick, A. M., Weaver, L. D., Yoder, J. B., Kim, E. H., Andresen, C., et al. (2021) · Structure · doi:10.1016/j.str.2021.03.002 · Cited by 13

SCN2A and Its Related Epileptic Phenotypes

Praticò, A. D., Giallongo, A., Arrabito, M., D'Amico, S., Gauci, M. C., Lombardo, G., Polizzi, A., Falsaperla, R., & Ruggieri, M. (2021) · Journal of Pediatric Neurology · doi:10.1055/s-0041-1727097 · Cited by 13

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

Jia, L., Li, M., Pachernegg, S., Sedó, A., Jancovski, N., Burbano, L. E., Dalby, K., Nemiroff, A., Reid, C. A., Maljevic, S., et al. (2024) · Journal of Neurochemistry · doi:10.1111/jnc.16103 · Cited by 13

The Voltage-Gated Sodium Channel in Drosophila , Para, Localizes to Dendrites As Well As Axons in Mechanosensitive Chordotonal Neurons

Ravenscroft, T. A., Jacobs, A., Gu, M., Eberl, D. F., & Bellen, H. J. (2023) · eNeuro · doi:10.1523/eneuro.0105-23.2023 · Cited by 13

Oral mexiletine for lidocaine-responsive neonatal epilepsy

Nakazawa, M., Okumura, A., Niijima, S., Yamashita, S., Kagitani‐Shimono, K., Hirose, S., & Shimizu, T. (2012) · Brain and Development · doi:10.1016/j.braindev.2012.10.011 · Cited by 13

Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice

Mahdiannasser, M., Rashidi‐Nezhad, A., Badv, R. S., & Akrami, S. M. (2022) · Acta Neurologica Belgica · doi:10.1007/s13760-022-02095-9 · Cited by 12

The importance of de novo mutations for pediatric neurological disease—It is not all in utero or birth trauma

Erickson, R. P. (2016) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2015.12.002 · Cited by 13

In utero seizures revealing dentato‐olivary dysplasia caused by SCN 2A mutation

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Functional Modulation of Nav1.2 Voltage-Gated Sodium Channels Induced by Escitalopram

Nakatani, Y., & Amano, T. (2018) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.b18-00214 · Cited by 10

New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies

Magalhães, P. H. M., de Moraes, H. T., Athié, M. C. P., Secolin, R., & Lopes‐Cendes, Í. (2019) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2019.07.029 · Cited by 10

Deciphering SCN2A : A comprehensive review of rodent models of Scn2a dysfunction

Scott, K. E. J., Hermosillo Arrieta, M. F., & Williams, A. J. (2025) · Epilepsia · doi:10.1111/epi.18615 · Cited by 9

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies

Hadjipanteli, A., Theodosiou, A., Papaevripidou, I., Evangelidou, P., Alexandrou, A., Salameh, N., Kallikas, I., Kakoullis, K., Frakala, S., Oxinou, C., et al. (2024) · Genes · doi:10.3390/genes15010119 · Cited by 9

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

Winquist, R. J., & Cohen, C. J. (2018) · Biochemical Pharmacology · doi:10.1016/j.bcp.2018.01.003 · Cited by 8

Further delineation of phenotypic spectrum of SCN2A ‐related disorder

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Case series of early SCN1A-related developmental and epileptic encephalopathies

Gowda, V., Amoghimath, R., Battina, M., Shivappa, S. K., & Benakappa, N. (2021) · Journal of Pediatric Neurosciences · doi:10.4103/jpn.jpn_99_20 · Cited by 9

Epigenetic Analysis of Neurocognitive Development at 1 year of Age in a Community-Based Pregnancy Cohort

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

Tzialla, C., Arossa, A., Mannarino, S., Orcesi, S., Veggiotti, P., Fiandrino, G., Zuffardi, O., & Errichiello, E. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104639 · Cited by 8

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

Panagiotakaki, E., Tiziano, F. D., Mikati, M. A., Vijfhuizen, L. S., Nicole, S., Lesca, G., Abiusi, E., Novelli, A., Pietro, L. D., Harder, A. V. E., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01489-4 · Cited by 8

"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

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Current Treatment Options for Early-Onset Pediatric Epileptic Encephalopathies

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Genetische Ursachen epileptischer Enzephalopathien

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Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures

Kong, Y., Yan, K., Hu, L., Wang, M., Dong, X., Lu, Y., Wu, B., Wang, H., Yang, L., & Zhou, W. (2018) · Clinica Chimica Acta · doi:10.1016/j.cca.2018.03.027 · Cited by 7

Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes

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New technologies in molecular genetics

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Backbone resonance assignments of complexes of human voltage-dependent sodium channel NaV1.2 IQ motif peptide bound to apo calmodulin and to the C-domain fragment of apo calmodulin

Mahling, R. W., Kilpatrick, A. M., & Shea, M. A. (2017) · Biomolecular NMR Assignments · doi:10.1007/s12104-017-9767-2 · Cited by 5

Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools

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A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet

Bashiri, F. A., Hudairi, A., Ghamdi, M. A., & Mahmoud, A. A. H. (2018) · Journal of Pediatric Epilepsy · doi:10.1055/s-0039-1691826 · Cited by 5

Role of SCN1A and SCN2A Gene Polymorphisms in Epilepsy Syndromes-A Study from India

Bhat, M. A., Guru, S. A., Mir, R., Waza, A. A., Zuberi, M., Sumi, M. P., Bodeliwala, S., Samadhiya, A., Puri, V., & Saxena, A. (2018) · Journal of Neurology and Neuroscience · doi:10.21767/2171-6625.1000238 · Cited by 5

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

Tan, M., Goad, B. S., Allen, M., Rodda, J., Richards, K., Ardern‐Holmes, S. L., Bamborschke, D., Fritzen, D., Hughes, I., Riney, K., et al. (2026) · Epilepsia · doi:10.1002/epi.70100 · Cited by 4

Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation

Nieto‐Barceló, J. J., Montes, N. G., Alonso, I. G., Martı́nez, F., Aparisi, M. J., Martínez-Matilla, M., Hernández, A. V. M., & Vila, M. T. (2021) · Journal of Pediatric Genetics · doi:10.1055/s-0041-1723958 · Cited by 4

Inversed Effects of Nav1.2 Deficiency at Medial Prefrontal Cortex and Ventral Tegmental Area for Prepulse Inhibition in Acoustic Startle Response

Suzuki, T., Hattori, S., Mizukami, H., Nakajima, R., Hibi, Y., Kato, S., Matsuzaki, M., Ikebe, R., Miyakawa, T., & Yamakawa, K. (2023) · Molecular Neurobiology · doi:10.1007/s12035-023-03610-6 · Cited by 5

Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients

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Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India

Gowda, V. K., Battina, M., Vegda, H., Srinivasan, V. M., Chikara, S. K., Mishra, A., Shivappa, S. K., & Benakappa, N. (2021) · Journal of Pediatric Genetics · doi:10.1055/s-0041-1731020 · Cited by 4

The Genetic Epilepsies

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Canaux sodiques et canalopathies : douleurs neuropathiques, épilepsies, migraine

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Genetic mechanisms of neurodevelopmental disorders

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Pathogenic SCN2A variants are associated with familial and sporadic hemiplegic migrainePreprint

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Emerging Gene-Based Pathways: Channelopathies (Epilepsy and Beyond)

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Biomarkers for epilepsy – a new ray of hope

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Highly Parallelized, Multicolor Optogenetic Recordings of Cellular Activity for Therapeutic Discovery Applications in Ion Channels and Disease-Associated Excitable Cells

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GABAergic Interneurons in Severe Early Epileptic Encephalopathy with a Suppression-Burst Pattern: A Continuum of Pathology

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Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma

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Genetic and clinical variations of developmental epileptic encephalopathies

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Development and Adaptive Function in Individuals With SCN2A -Related Disorders

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

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Phenotypic features of epilepsy due to sodium channelopathies – A single center experience from India

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Relevante genetische Befunde für die Praxis

Kegele, J., & Weber, Y. G. (2015) · Clinical Epileptology · doi:10.1007/s10309-015-0035-0 · Cited by 2

Etiological Evaluation of Infantile Epileptic Spasms Syndrome (West Syndrome) Based on the New 2017 International League Against Epilepsy Seizure Classification from Southern India

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SCN2A variants are associated with familial and sporadic hemiplegic migraine

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The neonatal SCN2A mutant channel mimics adult channel properties

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An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Nav1.2

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May PEHO syndrome be a clinical entity associated with early onset encephalopathies?

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Genetic Advances in Epilepsy

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Sequenciamento de nova geração na identificação de mutações em SCN1A em pacientes com encefalopatias epilépticas da infância

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Refractory Seizures of Infancy with SCN2A: A Case Review

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Acetazolamide-responsive episodic ataxia associated with a de novo SCN2A mutation

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Epileptic Spasms-West syndrome secondary to Dravet syndrome due to SCN gene mutation from India

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A nationwide survey of episodic ataxia in Japan

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Molecular Genetic Tests for Epilepsies

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10：遺伝子変異

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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaPreprint

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Electroencephalographic insights into variant function and clinical outcomes in SCN2A encephalopathyPreprint

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Epilepsy

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SCN2A-Related Disorders

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Position-dependent effects of SCN2A premature stop codons on neuronal excitability and behaviorPreprint

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De Novo SCN2A Mutations Cause Variable Phenotypes in Children with Epilepsy

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SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

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