Research & Literature

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

Dazzo E, Fanciulli M, Serioli E, et al.

American journal of human genetics 2015; (96(6)):992-1000.

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

Klein KM, Pendziwiat M, Cohen R, et al.

Journal of neurology 2016; (263(1)):11-6 doi:10.1007/s00415-015-7921-2.

Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation.

Kesim YF, Uzun GA, Yucesan E, et al.

Epilepsy research 2016; (120()):73-8.

Genetics of reflex seizures and epilepsies in humans and animals.

Italiano D, Striano P, Russo E, et al.

Epilepsy research 2016; (121()):47-54.

Small temporal pole encephalocele: A hidden cause of "normal" MRI temporal lobe epilepsy.

Toledano R, Jiménez-Huete A, Campo P, et al.

Epilepsia 2016; (57(5)):841-51 doi:10.1111/epi.13371.

Treatment of Established Status Epilepticus.

Falco-Walter JJ, Bleck T

Journal of clinical medicine 2016; (5(5)).

Clinical analysis of leucine-rich glioma inactivated-1 protein antibody associated with limbic encephalitis onset with seizures.

Li Z, Cui T, Shi W, Wang Q

Medicine 2016; (95(28)):e4244 doi:10.1097/MD.0000000000004244.

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors.

Dazzo E, Leonardi E, Belluzzi E, et al.

PLoS genetics 2016; (12(10)):e1006376 doi:10.1371/journal.pgen.1006376.

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.

Michelucci R, Pulitano P, Di Bonaventura C, et al.

Epilepsy & behavior : E&B 2017; (68()):103-107 doi:10.1016/j.yebeh.2016.12.003.

Instruction manual for the ILAE 2017 operational classification of seizure types.

Fisher RS, Cross JH, D'Souza C, et al.

Epilepsia 2017; (58(4)):531-542 doi:10.1111/epi.13671.

Practice Guideline Summary: Sudden Unexpected Death in Epilepsy Incidence Rates and Risk Factors: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.

Harden C, Tomson T, Gloss D, et al.

Epilepsy currents 2017; (17(3)):180-187 doi:10.5698/1535-7511.17.3.180.

CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.

Leonardi E, Dazzo E, Aspromonte MC, et al.

Epilepsy research 2018; (139()):51-53 doi:10.1016/j.eplepsyres.2017.11.006.

The current place of epilepsy surgery.

Engel J

Current opinion in neurology 2018; (31(2)):192-197 doi:10.1097/WCO.0000000000000528.

Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy.

Dazzo E, Rehberg K, Michelucci R, et al.

Annals of neurology 2018; (83(3)):483-493 doi:10.1002/ana.25167.

Epilepsy with auditory features: Long-term outcome and predictors of terminal remission.

Bisulli F, Menghi V, Vignatelli L, et al.

Epilepsia 2018; (59(4)):834-843 doi:10.1111/epi.14033.

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.

Kanner AM, Ashman E, Gloss D, et al.

Neurology 2018; (91(2)):74-81 doi:10.1212/WNL.0000000000005755.

The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(2)):398-408 doi:10.1038/s41436-018-0060-2.

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy: Report of the American Epilepsy Society and the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Kanner AM, Ashman E, Gloss D, et al.

Epilepsy currents 2018; (18(4)):269-278 doi:10.5698/1535-7597.18.4.269.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM, Shaw BJ, Burgess R, et al.

Neurology 2019; (92(2)):e96-e107 doi:10.1212/WNL.0000000000006729.

Factors predicting uncontrolled seizures in epilepsy with auditory features.

Zhang L, Zhu X, Zou X, Chen L

Seizure 2019; (65()):55-61 doi:10.1016/j.seizure.2018.12.023.

Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3 T brain MRI study with advanced neuroimaging methods.

Česká K, Aulická Š, Horák O, et al.

Epilepsy & behavior case reports 2019; (11()):39-42 doi:10.1016/j.ebcr.2018.10.003.

Risk Factors for Sudden Unexpected Death in Epilepsy (SUDEP) and Their Mitigation.

Whitney R, Donner EJ

Current treatment options in neurology 2019; (21(2)):7 doi:10.1007/s11940-019-0547-4.

Prognostic factors of postoperative seizure outcome in patients with temporal lobe epilepsy and normal magnetic resonance imaging.

Mariani V, Revay M, D'Orio P, et al.

Journal of neurology 2019; (266(9)):2144-2156 doi:10.1007/s00415-019-09394-x.

Clinical risk factors in SUDEP: A nationwide population-based case-control study.

Sveinsson O, Andersson T, Mattsson P, et al.

Neurology 2020; (94(4)):e419-e429 doi:10.1212/WNL.0000000000008741.

Predictors of drug-resistance in epilepsy with auditory features.

Zhang L, Zhu X, Peng A, et al.

Epilepsy research 2020; (164()):106353 doi:10.1016/j.eplepsyres.2020.106353.

Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation.

Michelucci R, Dazzo E, Volpi L, et al.

Epileptic disorders : international epilepsy journal with videotape 2020; (22(4)):443-448 doi:10.1684/epd.2020.1176.

Diagnostic yield of seizure recordings and neuroimaging in patients with focal epilepsy without interictal epileptiform discharges.

Suzuki M, Jin K, Kitazawa Y, et al.

Epilepsy & behavior : E&B 2020; (112()):107468 doi:10.1016/j.yebeh.2020.107468.

Epilepsy with auditory features: Contribution of known genes in 112 patients.

Bisulli F, Rinaldi C, Pippucci T, et al.

Seizure 2021; (85()):115-118 doi:10.1016/j.seizure.2020.12.015.

Resistant Temporal Lobe Epilepsy: Initial Steps into a Bigger Epilepsy Surgery Program.

Mehrotra A, Singh S, Kanjilal S, et al.

Journal of neurosciences in rural practice 2021; (12(1)):193-196 doi:10.1055/s-0040-1716796.

Felt stigma in seizure-free persons with epilepsy: Associated factors and its impact on health-related quality of life.

Lee SA,

Epilepsy & behavior : E&B 2021; (122()):108186 doi:10.1016/j.yebeh.2021.108186.

SUDEP risk and autonomic dysfunction in genetic epilepsies.

Sahly AN, Shevell M, Sadleir LG, Myers KA

Autonomic neuroscience : basic & clinical 2022; (237()):102907 doi:10.1016/j.autneu.2021.102907.

Clinical Features, Immunotherapy, and Outcomes of Anti-Leucine-Rich Glioma-Inactivated-1 Encephalitis.

Huang X, Fan C, Gao L, et al.

The Journal of neuropsychiatry and clinical neurosciences 2022; (34(2)):141-148 doi:10.1176/appi.neuropsych.20120303.

Sudden unexpected death in epilepsy.

Friedman D

Current opinion in neurology 2022; (35(2)):181-188 doi:10.1097/WCO.0000000000001034.

Molecular typing of familial temporal lobe epilepsy.

Liu C, Qiao XZ, Wei ZH, et al.

World journal of psychiatry 2022; (12(1)):98-107 doi:10.5498/wjp.v12.i1.98.

Epilepsy With Auditory Features: From Etiology to Treatment.

Furia A, Licchetta L, Muccioli L, et al.

Frontiers in neurology 2021; (12()):807939 doi:10.3389/fneur.2021.807939.

Ictal aphasia in LGI1-related autosomal dominant epilepsy with auditory features.

Moloney PB, McHugh J, O'Byrne J, et al.

Practical neurology 2022; (22(4)):317-320 doi:10.1136/practneurol-2022-003366.

DEPDC5-related epilepsy: A comprehensive review.

Samanta D

Epilepsy & behavior : E&B 2022; (130()):108678 doi:10.1016/j.yebeh.2022.108678.

Discussion of the Brazilian neurologists about sudden unexpected death in epilepsy.

Mosini A, Abdalla IG, Calió ML, et al.

Revista da Associacao Medica Brasileira (1992) 2022; (68(5)):675-679 doi:10.1590/1806-9282.20220063.

Current Management of Generalized Convulsive Status Epilepticus in Children.

Aulická Š

Children (Basel, Switzerland) 2022; (9(10)) doi:10.3390/children9101586.

Localizing and lateralizing value of auditory phenomena in seizures.

Cossette-Roberge H, Li J, Citherlet D, Nguyen DK

Epilepsy & behavior : E&B 2023; (145()):109327 doi:10.1016/j.yebeh.2023.109327.

Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy.

Kao HY, Yao Y, Yang T, et al.

Annals of neurology 2023; (94(5)):812-824 doi:10.1002/ana.26773.

Nonconvulsive Status Epilepticus With Generalized Spike-and-Wave Discharges: Pathophysiological and Nosological Considerations.

Wolf MC, Butner KS, Brinkley EB, et al.

Cureus 2023; (15(10)):e47401 doi:10.7759/cureus.47401.

Current challenges in focal epilepsy treatment: An Italian Delphi consensus.

Di Gennaro G, Lattanzi S, Mecarelli O, et al.

Epilepsy & behavior : E&B 2024; (155()):109796 doi:10.1016/j.yebeh.2024.109796.

A de novo pathogenic variant in MICAL-1 causes epilepsy with auditory features.

Bonanni P, Giorda R, Michelucci R, et al.

Epilepsia open 2024; (9(3)):1083-1087 doi:10.1002/epi4.12937.

Ictal Cotard delusion as a manifestation of nonconvulsive status epilepticus: A case report and commentary.

Crespo Pimentel B, Kuchukhidze G, Heyduk M, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(3)):375-381 doi:10.1002/epd2.20221.

Clinical characteristics and surgical outcomes of epilepsy associated with temporal encephalocele: A systematic review.

Zhou DJ, Woodson-Smith S, Emmert BE, et al.

Epilepsy & behavior : E&B 2024; (158()):109928 doi:10.1016/j.yebeh.2024.109928.

Clinical Features and Electroencephalogram Analysis of Brain Network Functional Connectivity in Anti-Leucine-Rich Glioma-Inactivated 1 Antibody Encephalitis.

Guo X, Shi H, Sun Y, et al.

Journal of inflammation research 2024; (17()):7881-7891 doi:10.2147/JIR.S485190.

Seizure freedom and reducing the risk of sudden unexpected death in patients with focal epilepsy treated with cenobamate or other antiseizure medications.

Sperling MR, Rosenfeld WE, Watson J, Klein P

Epilepsia 2025; (66 Suppl 1()):4-14 doi:10.1111/epi.18307.

Identification of autosomal dominant lateral temporal epilepsy caused by a novel mutation in RELN in China: a case report.

Chen Y, Zhu Y, Zhong W, et al.

Acta epileptologica 2024; (6(1)):31 doi:10.1186/s42494-024-00179-y.

Evolution of epilepsy comorbidities in seizure free patients: Is no seizure a synonym of no epilepsy?

Lagarde S, Bartolomei F

Revue neurologique 2025; (181(5)):456-470 doi:10.1016/j.neurol.2025.04.004.

Long-Term Adherence to a Subcutaneous Two-Channel EEG System in Patients With Focal Epilepsy.

Zabler N, Novitskaya Y, Sprünken R, et al.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2026; (43(2)):150-156 doi:10.1097/WNP.0000000000001169.

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.

Hirano Y, Miyazaki Y, Ishikawa D, et al.

Brain : a journal of neurology 2025; (148(10)):3514-3522 doi:10.1093/brain/awaf202.

Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22-Related Pathologies in a Moroccan Family.

El Mouhi H, Elmakhzen B, Bouyahyaoui A, et al.

BMJ neurology open 2025; (7(2)):e001267 doi:10.1136/bmjno-2025-001267.

Anti-LGI1 encephalitis: clinical presentation, imaging features, and prognostic analysis.

Chen X, Liu Q, Wang X, et al.

Frontiers in neurology 2025; (16()):1703647 doi:10.3389/fneur.2025.1703647.

Ictal semiology in lateral temporal epilepsy: A systematic review and meta-analysis.

Doerrfuss JI, Zimmermann G, Holtkamp M

Epileptic disorders : international epilepsy journal with videotape 2026; (28(3)):678-689 doi:10.1002/epd2.70189.

Translational Research Symposium: Current State of SUDEP Research.

Ryan JM, Donner EJ, Zulfiqar-Ali Q, et al.

Epilepsy currents 2026; 15357597261418785 doi:10.1177/15357597261418785.