Berkovic, Samuel F.

Phenotypic Characterization of an α4 Neuronal Nicotinic Acetylcholine Receptor Subunit Knock-Out Mouse

Ross, S. A., Wong, J. Y. F., Clifford, J. J., Kinsella, A., Massalas, J. S., Horne, M. K., Scheffer, I. E., Kola, I., Waddington, J. L., Berkovic, S. F., et al. (2000) · The Journal of Neuroscience

Nicotinic Acetylcholine Receptors StudyNeuroscience and Neuropharmacology Research

Cited by 204

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

Mullen, S. A., Carvill, G. L., Bellows, S., Bayly, M. A., Berkovic, S. F., Dibbens, L. M., Scheffer, I. E., & Mefford, H. C. (2013) · Neurology

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 188

How Mutations in the nAChRs Can Cause ADNFLE Epilepsy

Bertrand, D., Picard, F., Le Hellard, S., Weiland, S., Favre, I., Phillips, H., Bertrand, S., Berkovic, S. F., Malafosse, A., & Mulley, J. (2002) · Epilepsia

Nicotinic Acetylcholine Receptors StudyEpilepsy research and treatment

Cited by 173

Genes4Epilepsy: An epilepsy gene resource

Oliver, K. L., Scheffer, I. E., Bennett, M. F., Grinton, B. E., Bahlo, M., & Berkovic, S. F. (2023) · Epilepsia

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 172

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

Myers, C. T., Hollingsworth, G., Muir, A. M., Schneider, A. L., Thuesmunn, Z., Knupp, A., King, C., Lacroix, A., Mehaffey, M. G., Berkovic, S. F., et al. (2018) · New England Journal of Medicine

Epilepsy research and treatmentGenomic variations and chromosomal abnormalities

Cited by 139

Genetic epilepsy with febrile seizures plus: Refining the spectrum

Zhang, Y.-H., Burgess, R., Malone, J. P., Glubb, G. C., Helbig, K. L., Vadlamudi, L., Kivity, S., Afawi, Z., Bleasel, A., Grattan-Smith, P., et al. (2017) · Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 139

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Mullen, S. A., Marini, C., Suls, A., Mei, D., Della Giustina, E., Buti, D., Arsov, T., Damiano, J., Lawrence, K., De Jonghe, P., et al. (2011) · Archives of Neurology

Epilepsy research and treatmentGlycogen Storage Diseases and Myoclonus

Cited by 138

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., et al. (2013) · Human Molecular Genetics

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 130

Sodium channels and the neurobiology of epilepsy

Oliva, M., Berkovic, S. F., & Petrou, S. (2012) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

Cited by 124

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Finelli, M. J., Verstreken, P., Cardon, A., Stražišar, B. G., Holder, J. L., Lesca, G., et al. (2016) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 124

Progressive Gait Deterioration in Adolescents With Dravet Syndrome

Rodda, J. M., Scheffer, I. E., McMahon, J. M., Berkovic, S. F., & Graham, H. K. (2012) · Archives of Neurology

Cerebral Palsy and Movement DisordersEpilepsy research and treatment

Cited by 121

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

Xu, R., Thomas, E. A., Jenkins, M., Gazina, E. V., Chiu, C., Heron, S. E., Mulley, J. C., Scheffer, I. E., Berkovic, S. F., & Petrou, S. (2007) · Molecular and Cellular Neuroscience

Ion channel regulation and functionEpilepsy research and treatment

Cited by 84

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

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 77

Epileptic spasms are a feature of DEPDC5 mTORopathy

Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., et al. (2015) · Neurology Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 76

The severe epilepsy syndromes of infancy: A population‐based study

Howell, K. B., Freeman, J. L., Mackay, M. T., Fahey, M. C., Archer, J., Berkovic, S. F., Chan, E., Dabscheck, G., Eggers, S., Hayman, M., et al. (2021) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 72

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

Canafoglia, L., Morbin, M., Scaioli, V., Pareyson, D., D'Incerti, L., Fugnanesi, V., Tagliavini, F., Berkovic, S. F., & Franceschetti, S. (2014) · Epilepsia

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 71

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

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

Ye, Z., Bennett, M. F., Neal, A., Laing, J. A., Hunn, M. K., Wittayacharoenpong, T., Todaro, M., Patel, S. K., Bahlo, M., Kwan, P., et al. (2022) · Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Allan, T. J., Zalusky, M. P.-G., et al. (2024) · Nature Communications

Epilepsy research and treatmentEpigenetics and DNA Methylation

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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS )

Viswanathan, S., Oliver, K. L., Regan, B. M., Schneider, A. L., Myers, C. T., Mehaffey, M. G., LaCroix, A. J., Antony, J., Webster, R., Cardamone, M., et al. (2024) · Annals of Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Sleyp, Y., Valenzuela, I., Accogli, A., Ballon, K., Ben-Zeev, B., Berkovic, S. F., Broly, M., Callaerts, P., Caylor, R. C., Charles, P., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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