Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+).

Camfield P, Camfield C

Epileptic disorders : international epilepsy journal with videotape 2015; (17(2)):124-33 doi:10.1684/epd.2015.0737.

Dissecting the phenotypes of Dravet syndrome by gene deletion.

Rubinstein M, Han S, Tai C, et al.

Brain : a journal of neurology 2015; (138(Pt 8)):2219-33 doi:10.1093/brain/awv142.

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.

Hoffman-Zacharska D, Szczepanik E, Terczynska I, et al.

Neurologia i neurochirurgia polska 2015; (49(4)):258-66.

Evidence-Based Guideline: Treatment of Convulsive Status Epilepticus in Children and Adults: Report of the Guideline Committee of the American Epilepsy Society.

Glauser T, Shinnar S, Gloss D, et al.

Epilepsy currents 2016; (16(1)):48-61 doi:10.5698/1535-7597-16.1.48.

Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

Kang JQ, Macdonald RL

JAMA neurology 2016; (73(8)):1009-16 doi:10.1001/jamaneurol.2016.0449.

Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness.

Hanaya R, Niantiarno FH, Kashida Y, et al.

Epilepsy & behavior case reports 2017; (7()):16-19 doi:10.1016/j.ebcr.2016.11.001.

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Myers KA, Burgess R, Afawi Z, et al.

Epilepsia 2017; (58(2)):e26-e30 doi:10.1111/epi.13649.

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Yen JL, Garcia S, Montana A, et al.

Genome medicine 2017; (9(1)):7 doi:10.1186/s13073-016-0396-7.

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.

Kivity S, Oliver KL, Afawi Z, et al.

Epilepsy research 2017; (131()):9-14 doi:10.1016/j.eplepsyres.2017.01.012.

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

Cetica V, Chiari S, Mei D, et al.

Neurology 2017; (88(11)):1037-1044 doi:10.1212/WNL.0000000000003716.

Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.

Wirrell EC, Laux L, Donner E, et al.

Pediatric neurology 2017; (68()):18-34.e3 doi:10.1016/j.pediatrneurol.2017.01.025.

Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.

Huang X, Zhou C, Tian M, et al.

Epilepsia 2017; (58(8)):1451-1461 doi:10.1111/epi.13810.

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Zhang YH, Burgess R, Malone JP, et al.

Neurology 2017; (89(12)):1210-1219 doi:10.1212/WNL.0000000000004384.

Nonconvulsive status epilepticus after cessation of convulsive status epilepticus in pediatric intensive care unit patients.

Chen J, Xie L, Hu Y, et al.

Epilepsy & behavior : E&B 2018; (82()):68-73 doi:10.1016/j.yebeh.2018.02.008.

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.

Lindy AS, Stosser MB, Butler E, et al.

Epilepsia 2018; (59(5)):1062-1071 doi:10.1111/epi.14074.

Febrile seizures: an overview.

Leung AK, Hon KL, Leung TN

Drugs in context 2018; (7()):212536 doi:10.7573/dic.212536.

Genetic literacy series: genetic epilepsy with febrile seizures plus.

Myers KA, Scheffer IE, Berkovic SF,

Epileptic disorders : international epilepsy journal with videotape 2018; (20(4)):232-238 doi:10.1684/epd.2018.0985.

Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada.

Jain P, Andrade D, Donner E, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2019; (46(1)):7-13 doi:10.1017/cjn.2018.341.

Outcomes and comorbidities of SCN1A-related seizure disorders.

de Lange IM, Gunning B, Sonsma ACM, et al.

Epilepsy & behavior : E&B 2019; (90()):252-259 doi:10.1016/j.yebeh.2018.09.041.

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R, Patil N, Sankar R, et al.

Epilepsia open 2019; (4(3)):397-408 doi:10.1002/epi4.12348.

SCN1A-related phenotypes: Epilepsy and beyond.

Scheffer IE, Nabbout R

Epilepsia 2019; (60 Suppl 3()):S17-S24 doi:10.1111/epi.16386.

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.

Mei D, Cetica V, Marini C, Guerrini R

Epilepsia 2019; (60 Suppl 3()):S2-S7 doi:10.1111/epi.16054.

SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models.

Mantegazza M, Broccoli V

Epilepsia 2019; (60 Suppl 3()):S25-S38 doi:10.1111/epi.14700.

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.

Rochtus A, Olson HE, Smith L, et al.

Epilepsia 2020; (61(2)):249-258 doi:10.1111/epi.16427.

EEG Monitoring After Convulsive Status Epilepticus.

Fung FW, Abend NS

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2020; (37(5)):406-410 doi:10.1097/WNP.0000000000000664.

H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus.

Ding J, Miao QF, Zhang JW, et al.

Brain and behavior 2020; (10(12)):e01859 doi:10.1002/brb3.1859.

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Heron SE, Regan BM, Harris RV, et al.

Neurology 2021; (96(18)):e2251-e2260 doi:10.1212/WNL.0000000000011855.

Age-related evolution of EEG in Dravet syndrome: Meta-analysis of 155 patients.

Minato E, Myers KA

Seizure 2021; (91()):108-111 doi:10.1016/j.seizure.2021.06.007.

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy.

Das A, Smith MA, O'Dowd DK

Journal of visualized experiments : JoVE 2021; doi:10.3791/62846.

Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.

Li W, Schneider AL, Scheffer IE

Epilepsia 2021; (62(9)):2205-2217 doi:10.1111/epi.17015.

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.

Skotte L, Fadista J, Bybjerg-Grauholm J, et al.

Brain : a journal of neurology 2022; (145(2)):555-568 doi:10.1093/brain/awab260.

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.

Brunklaus A, Pérez-Palma E, Ghanty I, et al.

Neurology 2022; (98(11)):e1163-e1174 doi:10.1212/WNL.0000000000200028.

Auditory phoneme discrimination, articulation, and language disorders in patients with genetic epilepsy with febrile seizures plus: A case-control study.

Sager G, Cetin BS, Cag Y, et al.

Epilepsy & behavior : E&B 2022; (129()):108626 doi:10.1016/j.yebeh.2022.108626.

Pre-hospital and emergency department treatment of convulsive status epilepticus in adults: an evidence synthesis.

Cruickshank M, Imamura M, Booth C, et al.

Health technology assessment (Winchester, England) 2022; (26(20)):1-76 doi:10.3310/RSVK2062.

Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.

Chen C, Fang F, Wang X, et al.

Frontiers in molecular neuroscience 2022; (15()):821012 doi:10.3389/fnmol.2022.821012.

SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.

Cornejo-Sanchez DM, Acharya A, Bharadwaj T, et al.

Genes 2022; (13(5)) doi:10.3390/genes13050754.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brunklaus A, Brünger T, Feng T, et al.

Brain : a journal of neurology 2022; (145(11)):3816-3831 doi:10.1093/brain/awac210.

Optimal Management of Status Epilepticus in Children in the Emergency Setting: A Review of Recent Advances.

Messahel S, Bracken L, Appleton R

Open access emergency medicine : OAEM 2022; (14()):491-506 doi:10.2147/OAEM.S293258.

A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.

Grinton BE, Robertson E, Fearnley LG, et al.

American journal of human genetics 2022; (109(11)):2080-2087 doi:10.1016/j.ajhg.2022.10.004.

Dravet syndrome: Advances in etiology, clinical presentation, and treatment.

He Z, Li Y, Zhao X, Li B

Epilepsy research 2022; (188()):107041 doi:10.1016/j.eplepsyres.2022.107041.

Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.

Matricardi S, Cestèle S, Trivisano M, et al.

Epilepsia 2023; (64(5)):1331-1347 doi:10.1111/epi.17509.

Clinical Features and Management of Status Epilepticus in the Pediatric Intensive Care Unit.

Soydan E, Guzin Y, Topal S, et al.

Pediatric emergency care 2023; (39(3)):142-147 doi:10.1097/PEC.0000000000002915.

Acute effect of antiseizure drugs on background oscillations in Scn1a A1783V Dravet syndrome mouse model.

Quinn S, Brusel M, Ovadia M, Rubinstein M

Frontiers in pharmacology 2023; (14()):1118216 doi:10.3389/fphar.2023.1118216.

An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus.

Li L, Yuan L, Zheng W, et al.

Frontiers in neurology 2023; (14()):1229569 doi:10.3389/fneur.2023.1229569.

Antisense oligonucleotides restore excitability, GABA signalling and sodium current density in a Dravet syndrome model.

Yuan Y, Lopez-Santiago L, Denomme N, et al.

Brain : a journal of neurology 2024; (147(4)):1231-1246 doi:10.1093/brain/awad349.

Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.

Perry MS, Scheffer IE, Sullivan J, et al.

Epilepsia 2024; (65(2)):322-337 doi:10.1111/epi.17850.

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Gallagher D, Pérez-Palma E, Bruenger T, et al.

Epilepsia 2024; (65(4)):1046-1059 doi:10.1111/epi.17882.

Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes.

Postma A, Minderhoud CA, Otte WM, et al.

Epilepsy & behavior : E&B 2024; (154()):109726 doi:10.1016/j.yebeh.2024.109726.

GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.

Li X, Guo S, Sun Y, et al.

Journal of translational medicine 2024; (22(1)):767 doi:10.1186/s12967-024-05387-1.

Quality of life in SCN1A-related seizure disorders across the lifespan.

Minderhoud CA, Postma A, Jansen FE, et al.

Brain communications 2024; (6(5)):fcae285 doi:10.1093/braincomms/fcae285.

A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.

Chourasia N, Vaidya R, Sengupta S, et al.

Pediatric neurology 2024; (161()):101-107 doi:10.1016/j.pediatrneurol.2024.09.009.

Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.

Oliver KL, Scheffer IE, Ellis CA, et al.

EBioMedicine 2024; (109()):105404 doi:10.1016/j.ebiom.2024.105404.

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Zou H, Zhang Q, Liao J, et al.

Frontiers in genetics 2024; (15()):1496411 doi:10.3389/fgene.2024.1496411.

Magnetic resonance imaging findings in SCN1A-related epilepsies and Dravet syndrome: A systematic review.

Falsitta LV, Cross H, Lindan C, et al.

Epilepsia 2025; (66(6)):1793-1803 doi:10.1111/epi.18344.

De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis.

Yan HJ, Liu WH, Xu MX, et al.

Frontiers in genetics 2025; (16()):1499716 doi:10.3389/fgene.2025.1499716.

Epilepsy-associated Variants of a Single SCN1A Codon exhibit Divergent Functional Properties.

Liebovitz LN, Thompson CH, Laux LL, George AL

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.10.16.682932.

Clinical and genetics spectrum of 392 Chinese patients with genetic epilepsy with febrile seizures plus.

Chen S, Quan Y, Yin F, Peng J

Journal of neurology 2025; (273(1)):18.

From Symptomatic Therapies to Disease-Modifying Approaches for Neuronal Sodium Channel Disorders.

Dinoi G, Canfora I, D'Agnano D, et al.

International journal of molecular sciences 2025; (27(1)) doi:10.3390/ijms27010032.

Recommendations for the community-based management of prolonged convulsive seizures in children in Europe.

Vigevano F, Arzimanoglou A, Auvin S, et al.

BMC pediatrics 2026; (26(1)):135.

A SCN1A missense variant (c.4522T>A, p.(Tyr1508Asn) associated with genetic epilepsy with febrile seizures plus: clinical phenotype and genetic analysis of a Chinese pedigree.

Li XL

Frontiers in genetics 2026; (17()):1746234 doi:10.3389/fgene.2026.1746234.

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.

Ellis CA, Copeland J, Velez I, et al.

Epilepsia 2026; (67(6)):3048-3057 doi:10.1002/epi.70160.

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Prentice AJ, McSalley I, Magielski JH, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.02.24.26346493.

SCN1A-related epilepsy with spike-wave activation in sleep: A retrospective cohort and literature review.

Ma A, Niu Y, Xu Z, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2026; (64()):9-19 doi:10.1016/j.ejpn.2026.07.006.

Developmental and/or Epileptic Encephalopathy with Spike-Wave Activation in Sleep: From Thalamocortical Mechanisms to Precision Therapy.

Samanta D

Children (Basel, Switzerland) 2026; (13(8)) doi:10.3390/children13080993.