Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes

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., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Bonardi, C. M., Heyne, H., Fiannacca, M., Fitzgerald, M. P., Gardella, E., Gunning, B. W., Olofsson, K., Lesca, G., Verbeek, N. E., Stamberger, H., et al. (2021) · Brain · doi:10.1093/brain/awab219 · Cited by 114

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Ye, Z., Chatterton, Z., Pflueger, J., Damiano, J. A., McQuillan, L., Simon Harvey, A., Malone, S., Do, H., Maixner, W., Schneider, A., et al. (2021) · Brain Communications · doi:10.1093/braincomms/fcaa235 · Cited by 77

The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype

Evely, K. M., Pryce, K. D., & Bhattacharjee, A. (2017) · Neuroscience · doi:10.1016/j.neuroscience.2017.03.035 · Cited by 34

A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes

Montier, L., Haneef, Z., Gavvala, J. R., Yoshor, D., North, R. Y., Verla, T. G., Ness, P. C. V., Drabek, J. M., & Goldman, A. M. (2019) · Epilepsia · doi:10.1111/epi.16328 · Cited by 31

Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies

Ye, Z., Bennett, M. F., Bahlo, M., Scheffer, I. E., Berkovic, S. F., Perucca, P., & Hildebrand, M. S. (2021) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2021.1981288 · Cited by 9

Developmental and epileptic encephalopathies

Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00546-6 · Cited by 158

mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy

Gerasimenko, A., Baldassari, S., & Baulac, S. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106144 · Cited by 85

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

Khoshkhoo, S., Wang, Y., Chahine, Y., Erson-Omay, Z., Robert, S. M., Kiziltug, E., Damisah, E. C., Nelson-Williams, C. J., Zhu, G., Kong, W., et al. (2023) · JAMA Neurology · doi:10.1001/jamaneurol.2023.0473 · Cited by 83

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions

Man, A., Scipio, M. D., Grewal, S., Suk, Y., Trinari, E., Ejaz, R., & Whitney, R. (2024) · Genes · doi:10.3390/genes15030332 · Cited by 55

Brain somatic mosaicism in epilepsy: Bringing results back to the clinic

D’Gama, A. M., & Poduri, A. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106104 · Cited by 40

Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup

Checri, R., Chipaux, M., Ferrand‐Sorbets, S., Raffo, E., Bulteau, C., Rosenberg, S. D., Doladilhe, M., Dorfmüller, G., Adle‐Biassette, H., Baldassari, S., et al. (2023) · Brain Communications · doi:10.1093/braincomms/fcad174 · Cited by 38

Genetic testing in children enrolled in epilepsy surgery program. A real-life study

Straka, B., Splítková, B., Vlčková, M., Tesner, P., Zůnová, H., Krsková, L., Koblížek, M., Kynčl, M., Maulisová, A., Bukačová, K., et al. (2023) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2023.09.009 · Cited by 25

Functional evaluation of epilepsy‐associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties

Hinckley, C. A., Zhu, Z., Chu, J., Gubbels, C. S., Danker, T., Cherry, J. J., Whelan, C. D., Engle, S. J., & Nguyen, V. (2023) · Epilepsia · doi:10.1111/epi.17648 · Cited by 22

RAS pathway: The new frontier of brain mosaicism in epilepsy

Sran, S., & Bedrosian, T. A. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106074 · Cited by 19

Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique

Klein, K. M., Mascarenhas, R., Merrikh, D., Khanbabaei, M., Maroilley, T., Kaur, N., Liu, Y., Soule, T., Manalo, M. K., Tamura, G., et al. (2024) · Epilepsia · doi:10.1111/epi.17980 · Cited by 15

Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology

Phillips, H. W., D’Gama, A. M., Wang, Y., Chahine, Y., Chiu, M. Y., Swanson, A. C., Ahtam, B., Bolton, J. B., Madsen, J. R., Lee, E. A., et al. (2023) · Neurology Genetics · doi:10.1212/nxg.0000000000200117 · Cited by 13

Characterization of low‐grade epilepsy‐associated tumor from implanted stereoelectroencephalography electrodes

Gatesman, T. A., Hect, J. L., Phillips, H. W., Johnson, B. J., Wald, A. I., McClung, C. A., Nikiforova, M. N., Skaugen, J. M., Pollack, I. F., Abel, T. J., et al. (2023) · Epilepsia Open · doi:10.1002/epi4.12840 · Cited by 12

Somatic Mosaicism in Brain Disorders

Corrigan, R. R., Mashburn‐Warren, L., Yoon, H., & Bedrosian, T. A. (2024) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-111523-023528 · Cited by 11

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants

D’Gama, A. M., Phillips, H. W., Wang, Y., Chiu, M. Y., Chahine, Y., Swanson, A. C., Smith, R. S., Pearl, P. L., Tsuboyama, M., Madsen, J. R., et al. (2025) · Brain Communications · doi:10.1093/braincomms/fcaf113 · Cited by 10

Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives

Checri, R., Baldassari, S., & Baulac, S. (2025) · Revue Neurologique · doi:10.1016/j.neurol.2025.03.003 · Cited by 10

Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma

Green, T. E., Fujita, A., Ghaderi, N., Heinzen, E. L., Matsumoto, N., Klein, K. M., Berkovic, S. F., & Hildebrand, M. S. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106261 · Cited by 10

Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome

Macdonald‐Laurs, E., Dzau, W., Warren, A. E. L., Coleman, M., Mignone, C., Stephenson, S. E. M., & Howell, K. B. (2024) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2024.2360117 · Cited by 10

High-resolution multimodal profiling of human epileptic brain activity via explanted depth electrodes

Dwivedi, A. K., Mahesh, A., Sanfeliu, A., Larkin, J., Siwicki, R. A., Sweeney, K. J., O’Brien, D. F., Widdess‐Walsh, P., Picelli, S., Henshall, D. C., et al. (2024) · JCI Insight · doi:10.1172/jci.insight.184518 · Cited by 11

Technological and computational approaches to detect somatic mosaicism in epilepsy

Boßelmann, C. M., Leu, C., & Lal, D. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106208 · Cited by 9

Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy

Mascarenhas, R., Merrikh, D., Khanbabaei, M., Kaur, N., Ghaderi, N., Maroilley, T., Liu, Y., Soule, T., Appendino, J. P., Jacobs, J., et al. (2025) · Epilepsia · doi:10.1111/epi.18251 · Cited by 7

Insights from stereoelectroencephalography in KCNT1 ‐related focal epilepsy suggest a multifocal and migrating epileptogenic network

Gokce‐Samar, Z., Lesca, G., Bourgeois‐Vionnet, J., Isnard, J., Boulogne, S., Valton, L., Catenoix, H., Marcon‐Mohsen, C., Ostrowsky‐Coste, K., Chatron, N., et al. (2025) · Epilepsia · doi:10.1111/epi.18425 · Cited by 4

Somatic mosaicism in focal epilepsies

Gooley, S., Perucca, P., Tubb, C., Hildebrand, M. S., & Berkovic, S. F. (2024) · Current Opinion in Neurology · doi:10.1097/wco.0000000000001244 · Cited by 5

A crash course in genomics for epilepsy clinicians

Moloney, P. B., & Delanty, N. (2025) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2025.110553 · Cited by 3

No association between histopathology and neurophysiology in surgical specimens from pediatric focal epilepsy patients

von Ellenrieder, N., Al-Rashid, M., Myers, K. A., Osterman, B., Simard‐Tremblay, E., Karamchandani, J., Guiot, M., Gotman, J., & Dudley, R. (2025) · Epilepsia · doi:10.1111/epi.18459 · Cited by 2

Transcriptomic Profiles from Stereo-EEGs May Reflect the Local Brain Cell Microenvironment in Human Epilepsy

Larkin, J., Dwivedi, A. K., Mahesh, A., Sanfeliu, A., Sweeney, K. J., O’Brien, D. F., Tiwari, V. K., Widdess‐Walsh, P., & Henshall, D. C. (2025) · Biomolecules · doi:10.3390/biom15121684 · Cited by 1

Advancing precision diagnostics: minimally invasive approaches for understanding the role of brain-limited somatic mutations in pediatric drug-resistant epilepsy

Fariyike, O. A., Narayan, N., Liu, H. Y., Sanchez, D. R., & Phillips, H. W. (2025) · Frontiers in Surgery · doi:10.3389/fsurg.2025.1568939 · Cited by 1

Somatic Variants and Surgical Epilepsies: Search and You Will Find

Andrade, D. M. (2023) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597231164276 · Cited by 1

High-Resolution Multimodal Profiling of Human Epileptic Brain Activity via Explanted Depth ElectrodesPreprint

Dwiwedi, A. K., Mahesh, A., Sanfeliu, A., Larkin, J., Siwicki, R. A., Sweeney, K. J., O’Brien, D. F., Widdess‐Walsh, P., Picelli, S., Henshall, D. C., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.07.03.601925 · Cited by 1

Clinical deep sequencing to diagnose pathogenic mosaic variants in malformations of cortical development and epilepsyPreprint

Stone, K., Prinzing, G., Lai, A., Smith, L. A., Sheidley, B. R., Corliss, M. M., Bowling, K. M., Cao, Y., Wiltrout, K., Stone, S. S. D., et al. (2026) · medRxiv · doi:10.64898/2026.09.01.26361943 · Cited by 1

Advances in genetics: The start of a new stage for management of focal cortical malformations

Ville, D. M. (2023) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2023.11.007

Clinical characteristics and outcomes of adults with multifocal epilepsy

Dudley, A. M., & Costello, D. J. (2025) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2024.110250

Transcriptomic profiles from stereo-EEGs reveal the local cell microenvironment in human epilepsyPreprint

Larkin, J., Dwivedi, A. K., Mahesh, A., Sanfeliu, A., Tiwari, V. K., Widdess‐Walsh, P., & Henshall, D. C. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.16.676570

Epilepsy surgery in children with a normal MRI

Malone, S. (2026) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2026.111264

Focal Cortical Dysplasia Type II : Somatic Mutations, Molecular Mechanisms, and Integrative Multi‐Omics Framework

Li, Z., Wang, Y.-Z., Shi, J., Luo, Y., Shan, Y., & Zhao, G. (2026) · CNS Neuroscience & Therapeutics · doi:10.1002/cns.71170

Diagnostic and mechanistic insights from molecular profiling of explanted stereo-EEG depth electrodes

Larkin, J., Widdess‐Walsh, P., Tiwari, V. K., & Henshall, D. C. (2026) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2026.102548

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants

D’Gama, A. M., Phillips, H. W., Wang, Y., Chiu, M. Y., Chahine, Y., Swanson, A. C., Smith, R. S., Pearl, P. L., Tsuboyama, M., Madsen, J. R., et al. (2025) · Brain Communications · doi:10.1093/braincomms/fcaf113 · Cited by 10

Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology

Phillips, H. W., D’Gama, A. M., Wang, Y., Chahine, Y., Chiu, M. Y., Swanson, A. C., Ahtam, B., Bolton, J. B., Madsen, J. R., Lee, E. A., et al. (2023) · Neurology Genetics · doi:10.1212/nxg.0000000000200117 · Cited by 13

Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique

Klein, K. M., Mascarenhas, R., Merrikh, D., Khanbabaei, M., Maroilley, T., Kaur, N., Liu, Y., Soule, T., Manalo, M. K., Tamura, G., et al. (2024) · Epilepsia · doi:10.1111/epi.17980 · Cited by 15

Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy

Mascarenhas, R., Merrikh, D., Khanbabaei, M., Kaur, N., Ghaderi, N., Maroilley, T., Liu, Y., Soule, T., Appendino, J. P., Jacobs, J., et al. (2025) · Epilepsia · doi:10.1111/epi.18251 · Cited by 7

Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue

Miller, K. E., Koboldt, D. C., Schieffer, K. M., Bedrosian, T. A., Crist, E. R., Sheline, A., Leraas, K., Magrini, V. J., Zhong, H., Brennan, P., et al. (2020) · Neurology Genetics · doi:10.1212/nxg.0000000000000460 · Cited by 35