Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed +121 more·2022·Brain

DOI 10.1093/brain/awab321

Cited by (147)

Items 101–147 of 147

Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis
Hui Chen, Xiaoyan Li, Huaping Wu, Xiaolan Sun, Yuanyuan Che, Jian Zha, Ruiyan Wang, Xiongying Yu, Yong Chen, Jianmin Zhong · 2022 · Frontiers in Neurology
Reply: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China
Katrine M. Johannesen, Yuanyuan Liu, Elena Gardella, Holger Lerche, Rikke Steensbjerre Møller · 2022 · Brain
The SCN1A Philadelphia variant – a gain-of-function mutation causing an early-onset epileptic encephalopathy
Jérôme Clatot, Shridhar Parthasarathy, Stacey R. Cohen, Jillian L. McKee, Shavonne L. Massey, Ala Somarowthu, Ethan M. Goldberg, Ingo Helbig · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants
Shridhar Parthasarathy, Stacey R. Cohen, Eryn Fitch, Priya Vaidiswaran, Sarah McKeown Ruggiero, Laina G. Lusk, Victoria Chisari, David Lewis‐Smith, Stephan Lauxmann, Christian M. Boßelmann et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
Beyond seizures: SCN8A heterozygous mutation presenting with epilepsy and paroxysmal dyskinesia
Xinjie Zhang, Tao Yu · 2024 · Annals of Medicine and Surgery
Channeling the Future of Pathogenicity Prediction for Genetic Variants in Epilepsy
Jacy L. Wagnon · 2023 · Epiliepsy currents/Epilepsy currents
Retigabine and gabapentin restore channel function and neuronal firing of an epilepsy-associated dominant-negative KCNQ5 variant
Johanna Krüger, Holger Lerche · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
Accurate long-read sequencing identified GBA variants as a major genetic risk factor in the Luxembourg Parkinson’s study
Sinthuja Pachchek, Zied Landoulsi, Lukas Pavelka, Claudia Schulte, Elena Buena‐Atienza, Caspar Groß, Ann‐Kathrin Hauser, Dheeraj Reddy Bobbili, Nicolas Casadei, Patrick May et al. · 2023 · medRxiv
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Darío Ortigoza‐Escobar, Sergio Aguilera, Deyanira García‐Navas, Tarja Linnankivi, Eija K. Gaily, H.J.A. van Ruiten et al. · 2023 · medRxiv
SCN8A gain-of-function mutation is associated with a relatively mild phenotype of epilepsy
Bao-Tian Wang, Jun-Hong Jang, Jinjing Yuan, De Wu, Yang Li · 2023 · Research Square
Electroencephalographic insights into variant function and clinical outcomes in SCN2A encephalopathy
Michelle Fogerson, Melina Tsitsiklis, Elise Brimble, Tobias Brünger, Alex Arslan, Jayne Nerrie, Kim Laberinto, Alix M.B. Lacoste, Richard L. Martin, Dennis Lal et al. · 2023 · medRxiv
Evaluating Clinical Presentation and Long-Term Outcomes in Individuals with Genetic and Non-Genetic Epilepsy Treated with Epilepsy Surgery: A Single-Center Study
Alina Ivaniuk, Christian M. Boßelmann, Elia Pestana‐Knight, Xiaoming Zhang, Lara E. Jehi, William E. Bingaman, Imad Najm, Dennis Lal · 2023 · medRxiv
Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy
Shir Quinn, Nan Zhang, Timothy A. Fenton, Marina Brusel, Preethi Muruganandam, Yoav Peleg, Moshe Giladi, Yoni Haitin, Holger Lerche, Haim Bassan et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
Attentional Deficits and Absence Epilepsy: A Tale of 2 Interneuronopathies
Juliet K. Knowles · 2024 · Epiliepsy currents/Epilepsy currents
Genetic epilepsy and role of mutation variants in 27 epileptic children: results from a “single tertiary centre” and literature review
Piero Pavone, Ottavia Avola, Claudia Francesca Oliva, Alessandra Di Nora, Tiziana Timpanaro, Chiara Nannola, Filippo Greco, Raffaele Falsaperla, Agata Polizzi · 2024 · AIMS Medical Science
Non‐epileptic stimulus‐sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene
Silvana Calligaris, Matías Juanes, María Sol Touzón, Lorena Altamirano, Mariana Amina Loos, Gabriela Reyes Valenzuela, Vinicio Albino, Marisa Laura Armeno, Roberto Horacio Caraballo · 2024 · Epileptic Disorders
Deciphering the dynamic clinical patterns in SCN8A -related disorders using real-world data
Jan H. Magielski, Stacey R. Cohen, Michael C. Kaufman, Shridhar Parthasarathy, Julie Xian, Elise Brimble, Nasha Fitter, Francesca Furia, Elena Gardella, Rikke Steensbjerre Møller et al. · 2024 · medRxiv
SCN2A-Related Disorders
Megan Abbott, Kevin J. Bender, Andreas Brunklaus, Scott Demarest, Shawn M. Egan, Isabel Haviland, Jennifer A. Kearney, Leah Schust Myers, Heather E. Olson, Stephan Sanders et al. · 2024 · Cambridge University Press eBooks
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes
Tobias Brünger, Alina Ivanuk, Eduardo Pérez‐Palma, Ludovica Montanucci, Stacey R. Cohen, Lacey A. Smith, Shridhar Parthasarathy, Ingo Helbig, Michael Nothnagel, Patrick May et al. · 2024 · Research Square
Patient leadership and partnerships accelerate therapies for SCN8A and other developmental and epileptic encephalopathies
Gabrielle Conecker, JayEtta Hecker, Michael F. Hammer · 2025 · Therapeutic Advances in Rare Disease
Investigating Quality of Life and Adaptive Functioning in Patients With SCN8A -Related Epilepsy
Vivien X. Xie, Madison M. Berl, Zachary B. Kramer, John M. Schreiber · 2025 · Journal of Child Neurology
Nontraditional Antiseizure Medications to Consider When Traditional Options Have Failed: Medications for Refractory Seizures and Epilepsies
Adrian Turner, Michael Scott Perry · 2025 · The Journal of Pediatric Pharmacology and Therapeutics
Function Matters: Variant Mechanisms in the Era of Precision Medicine
Christian M. Boßelmann · 2025 · Neuropediatrics
Developmental epileptic encephalopathy caused by a de novo mutation in the SCN8A gene
N. V. Chebanenko, Yu.A. Fedotova, Соколов Павел Леонидович, D. M. Mednaya · 2025 · S S Korsakov Journal of Neurology and Psychiatry
Clinical and Genetic Spectrum of SCN8A -Related Disorders: A Retrospective Study From the Gulf Region
Osama Yousef Muthaffar, Mashael Alsubhan, Ali Mir, Hind Alsharhan, Mariam Ayed, Mohamed Zakkariah, Reem M. Elshafie, Amna Mohammed Al-Futaisi, Ahmed Khamis Bamaga, Khalid J. Hundallah et al. · 2025 · Journal of Child Neurology
Epileptogenesis and functional lability of the genome
Соколов Павел Леонидович, N. V. Chebanenko, Alexey I. Krapivkin · 2025 · S S Korsakov Journal of Neurology and Psychiatry
Longitudinal analyses of electronic medical records reveal dynamic developmental trajectories for patients with SCN8A ‐related disorders
Kiran Smelser, Taryn Laird, Joshua Hack, Elyse Tanzer, Ian Stewart, Joseph C. Watkins, Michael F. Hammer · 2025 · Epilepsia
Additional file 1 of Expanding the genotype-phenotype spectrum in SCN8A-related disorders
Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus G. Boelman, Richard A. Dean, Samuel J. Goodchild, Janette Mezeyova, Noah Gregory Shuart, James P. Johnson, Lee, James et al. · 2024 · Figshare
Cortical Versus Hippocampal Organoids: A Tale of Two Cities
Aynara C. Wulsin, Steve C. Danzer · 2026 · Epiliepsy currents/Epilepsy currents
Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement
Marwa Maalej, Lamia Sfaihi, Roeya Kolsi, Olfa Alila‐Fersi, Marwa Ammar, Thouraya Kammoun, Abdelaziz Tlili, Faïza Fakhfakh · 2026 · Journal of Molecular Neuroscience
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Lanie N. Liebovitz, Christopher H. Thompson, Linda Laux, Alfred L. George · 2026 · Annals of Clinical and Translational Neurology
Developmental Epileptic Encephalopathy Caused by a De Novo Mutation in the SCN8A Gene
N. V. Chebanenko, Yu.A. Fedotova, Соколов Павел Леонидович, D. M. Mednaya · 2026 · Neuroscience and Behavioral Physiology
Genetik frühkindlicher Epilepsien und epileptischer Syndrome
Ilona Krey, Matias Wagner · 2026 · Clinical Epileptology
Neurophysiological characterization and targeted treatment of rhythmic cortical myoclonus in an SCN8A gain-of-function variant
Davide Caputo, Irene Bagnasco, Laura Canafoglia, Elisa Visani, Francesca Ragona, Ferruccio Panzica, Nardo Nardocci, Silvana Franceschetti, Tiziana Granata · 2026 · Clinical Neurophysiology
The Bright Side of the Spectrum: Self‐Limited Infantile Epilepsy‐Related SCN8A Gof Variant
F Keskin, Çağatay Günay, Gizem Doğan, Figen Baydan, Gamze Sarıkaya Uzan · 2026 · International Journal of Developmental Neuroscience
A Zebrafish Platform to Model Human SCN2A and SCN8A Epilepsy and Evaluate Anti-Seizure Medications
Patrick C. Milder, Theodore Cummins, James A. Marrs · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
Genetic heterogeneity, movement disorders, and white matter abnormalities in pediatric developmental and epileptic encephalopathies: A retrospective cohort study from a National Neurodegenerative and Leukodystrophy Registry
Pouria Mohammadi, Sahand Tehrani Fateh, Reza Shervin Badv, Neda Pak, Mahmoud Reza Ashrafi, Morteza Heidari, Mahmoud Mohammadi, Gholamreza Zamani, Zahra Rezaei, Sedigheh Nikbakht et al. · 2026 · Epilepsy Research
Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variants
Federica Martina Abigail Tanganelli, Maria Francesca Di Feo, Francesca Madia, Lorenzo Chiarella, Alberto Piccinni, Edoardo Canale, Elisabetta Amadori, Giulia Nobile, Giulia Prato, Stella Vari et al. · 2026 · Seizure
Epilepsy‐Dyskinesia Syndromes: The Venn Diagram of Genetic Epilepsy and Movement Disorders
Katerina Bernardi, Julian E. Alecu, Christelle Moufawad El Achkar, Laura S. Tochen, Phillip Lawrence Pearl, Darius Ebrahimi‐Fakhari · 2026 · Movement Disorders
Phenotype-driven response to sodium channel blockers in neonatal and infantile genetic epilepsies with tonic seizures
Evelina Carapancea, Benoit Semal, Nathalie Merci, Rosa Pugliano, Tristan T. Sands, Maria Roberta Cilio, Alec Aeby · 2026 · Seizure
Molecular context of pathogenic variants is associated with phenotype and treatment response in SCN8A-related disorders
Joshua Hack, Joseph C. Watkins, Michael F. Hammer · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
Differential effects of sodium channel blockers on SCN8A gain-of-function variants associated with drug-responsive or -resistant epilepsy
Hang Lyu, Siyu Li, Roberto Previtali, Katrine M. Johannesen, Bingqi Guo, Christian M. Boßelmann, Elena Gardella, Rikke Steensbjerre Møller, Holger Lerche, Yuanyuan Liu · 2026 · Pharmacological Research
SCN1A-Related Epilepsies: Clinical Spectrum and Mechanisms
Ja-Un Moon, Tae‐Hoon Eom · 2026 · Current Issues in Molecular Biology
Severe skeletal fragility in SCN8A ‐related developmental and epileptic encephalopathy
Adélia Maria de Miranda Henriques‐Souza, Kette D. R. Valente · 2026 · Epilepsia
Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission
Ingrid Eileen Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza‐Mwesige, Rima Nabbout, Alshimaa Shaban Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney et al. · 2026 · Epilepsia
Diagnostic Yield, Diagnostic Delay, and Clinical Utility of Genetic Testing in 930 Children with Suspected Genetic Epilepsy
Rui Dong, Hongwei Zhang, Xiaochen Wang, Kaihui Zhang, Guo-hua Liu · 2026 · Genes
Previously Undiagnosed Clinically Significant Neurogenetic Disorders in Neonates Treated for Presumed Hypoxic–Ischemic Encephalopathy: A Real-World Cohort Study
Yavuz Ataş, Merve Soğukpınar, Bülent Sönmez, Nihal Soylu, Mehmet Mehdi Oğuz, Mahmut Çelik, Havva Akmaz Ünlü, Fehime Erdem, Çisem Çınar, Şenol Demir et al. · 2026 · Children