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Most cited papers from National Epilepsy Center

What are the most cited papers from National Epilepsy Center?

The most cited paper from National Epilepsy Center is "Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study" (Jacqueline A. French, John A. Lawson, Zühal Yapıcı et al., 2016), with 770 citations. Next come "Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains" (522) and "Mutations in EFHC1 cause juvenile myoclonic epilepsy" (376).

Showing 50 of 61 papers. Every paper with more than 79 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study Jacqueline A. French, John A. Lawson, Zühal Yapıcı et al. · The Lancet Open access 7 Sep 2016 770
2 Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains Takashi Nonaka, Masami Masuda‐Suzukake, Tetsuaki Arai et al. · Cell Reports Open access Jul 2013 522
3 Mutations in EFHC1 cause juvenile myoclonic epilepsy Toshimitsu Suzuki et al. · Nature Genetics 18 Jul 2004 376
4 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures Tateki Fujiwara · Brain 3 Feb 2003 348
5 Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease Kenya Nishioka, Shin Hayashi, Matthew James Farrer et al. · Annals of Neurology 15 Dec 2005 316
6 Multi‐institutional Study on the Teratogenicity and Fetal Toxicity of Antiepileptic Drugs: A Report of a Collaborative Study Group in Japan Yoshibumi Nakane et al. · Epilepsia Dec 1980 305
7 Genetic Variants Associated With Phenytoin-Related Severe Cutaneous Adverse Reactions Wen‐Hung Chung et al. · JAMA 5 Aug 2014 297
8 TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients John Christopher Kingswood et al. · Orphanet Journal of Rare Diseases Open access 5 Jan 2017 290
9 Zonisamide blocks T-type calcium channel in cultured neurons of rat cerebral cortex Setsuo Suzuki, Kaori Kawakami, Shigeko Nishimura et al. · Epilepsy Research Jun 1992 269
10 Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights Itaru Kushima et al. · Cell Reports Open access Sep 2018 265
11 Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study Rima Nabbout et al. · Epilepsia Open Open access 15 Nov 2018 247
12 HLA‐B*1511 is a risk factor for carbamazepine‐induced Stevens‐Johnson syndrome and toxic epidermal necrolysis in Japanese patients Nahoko Kaniwa, Yoshiro Saito, Michiko Aihara et al. · Epilepsia Open access 3 Nov 2010 229
13 GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture Remi Stevelink et al. · Nature Genetics ReviewOpen access319 authors 31 Aug 2023 226
14 Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study Aya Narita et al. · Annals of Clinical and Translational Neurology Open access 2 Feb 2016 215
15 A Nonsense Mutation of the Sodium Channel GeneSCN2Ain a Patient with Intractable Epilepsy and Mental Decline Kazusaku Kamiya, Makoto Kaneda, Takashi Sugawara et al. · Journal of Neuroscience Open access 17 Mar 2004 196
16 TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study Petrus J. de Vries et al. · Orphanet Journal of Rare Diseases Open access 10 Sep 2018 194
17 A whole-genome association study of major determinants for allopurinol-related Stevens–Johnson syndrome and toxic epidermal necrolysis in Japanese patients Masahiro Tohkin, Nahoko Kaniwa, Yoshiro Saito et al. · The Pharmacogenomics Journal 13 Sep 2011 186
18 Mass spectrometric analysis of accumulated TDP-43 in amyotrophic lateral sclerosis brains Fuyuki Kametani, Tomokazu Obi, Takeo Shishido et al. · Scientific Reports Open access 16 Mar 2016 179
19 How to record high‐frequency oscillations in epilepsy: A practical guideline Maeike Zijlmans, Gregory A. Worrell, Matthias Dümpelmann et al. · Epilepsia Open access 16 Jun 2017 173
20 Increased Synchronization of Cortical Oscillatory Activities between Human Supplementary Motor and Primary Sensorimotor Areas during Voluntary Movements Shinji Ohara, Tatsuya Mima, Koichi Baba et al. · Journal of Neuroscience Open access Dec 2001 168
21 PNES around the world: Where we are now and how we can close the diagnosis and treatment gaps—an ILAE PNES Task Force report Kousuke Kanemoto, William Curt LaFrance Jr, Roderick D. Duncan et al. · Epilepsia Open Open access 9 May 2017 166
22 Efficacy, safety, and tolerability of lacosamide monotherapy versus controlled-release carbamazepine in patients with newly diagnosed epilepsy: a phase 3, randomised, double-blind, non-inferiority trial Michel Baulac, Felix Rosenow, Manuel Toledo et al. · The Lancet Neurology 23 Nov 2016 165
23 Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome Yushi Inoue · Brain Jun 1997 162
24 Intrathecal overproduction of proinflammatory cytokines and chemokines in febrile infection-related refractory status epilepticus Hiroshi Sakuma, Naoyuki Tanuma, Ichiro Kuki et al. · Journal of Neurology Neurosurgery & Psychiatry 14 Nov 2014 161
25 HLA Class I markers in Japanese patients with carbamazepine‐induced cutaneous adverse reactions Hiroko Ikeda, Yukitoshi Takahashi, Etsuko Yamazaki et al. · Epilepsia 19 Aug 2009 145
26 Standardized computer-based organized reporting of EEG: SCORE – Second version Sándor Beniczky et al. · Clinical Neurophysiology Open access 9 Aug 2017 139
27 A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy B. P. Singh, Ikuo Ogiwara, Makoto Kaneda et al. · Neurobiology of Disease Open access 25 Aug 2006 136
28 Expanding the clinical phenotype of SNCA duplication carriers Kenya Nishioka, Owen A. Ross, Kenji Ishii et al. · Movement Disorders 26 Jun 2009 134
29 Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a peculiar form of childhood encephalitis Hiroshi Sakuma, Yutaka Awaya, Masashi Shiomi et al. · Acta Neurologica Scandinavica 17 Dec 2009 126
30 Outcome of vagus nerve stimulation for drug‐resistant epilepsy: the first three years of a prospective Japanese registry Kensuke Kawai, Tatsuya Tanaka, Hiroshi Baba et al. · Epileptic Disorders Sep 2017 123
31 Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice Ikuo Ogiwara, Hiroyuki Miyamoto, Tetsuya Tatsukawa et al. · Communications Biology Open access 13 Jul 2018 122
32 Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial Paolo Curatolo, David Neal Franz, John A. Lawson et al. · The Lancet Child & Adolescent Health 24 May 2018 119
33 Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development Changuk Chung et al. · Nature Genetics Open access205 authors 12 Jan 2023 118
34 Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures Naoko Hara Tomioka, Hiroki Yasuda, Hiroyuki Miyamoto et al. · Nature Communications Open access 22 Jul 2014 118
35 STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome—Result of Japanese cohort study Motoko Otsuka, Hirokazu Oguni, Jao‐Shwann Liang et al. · Epilepsia Open access 3 Nov 2010 117
36 Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness John Christopher Kingswood et al. · Nephrology Dialysis Transplantation Open access 8 Mar 2018 115
37 Stiripentol open study in Japanese patients with Dravet syndrome Yushi Inoue, Yoko Ohtsuka, Hirokazu Oguni et al. · Epilepsia Open access 22 Jun 2009 114
38 Rapid amygdala gamma oscillations in response to fearful facial expressions Wataru Sato, Takanori Kochiyama, Shota Uono et al. · Neuropsychologia Open access 22 Dec 2010 114
39 Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries Hiroyuki Tomiyama et al. · Movement Disorders Open access 18 Apr 2006 112
40 In vivo mitochondrial and glycolytic impairments in patients with Alzheimer disease Tatsuhiro Terada, Tomokazu Obi, Tomoyasu Bunai et al. · Neurology 6 Mar 2020 111
41 Everolimus for treatment-refractory seizures in TSC David Neal Franz et al. · Neurology Clinical Practice Open access118 authors Oct 2018 111
42 Independent strong association of HLA-A*02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe mucosal involvement Mayumi Ueta, Nahoko Kaniwa, Chie Sotozono et al. · Scientific Reports Open access 30 Apr 2014 100
43 Vitamin B 6 –responsive epilepsy due to inherited GPI deficiency Ichiro Kuki, Yukitoshi Takahashi, Shin Okazaki et al. · Neurology 19 Sep 2013 99
44 Surgical Versus Medical Treatment for Epilepsy. I. Outcome Related to Survival, Seizures, and Neurologic Deficit B Guldvog, Yngve Løyning, Eivinn Hauglie-Hanssen et al. · Epilepsia Jun 1991 97
45 Long-term developmental outcome after early hemispherotomy for hemimegalencephaly in infants with epileptic encephalopathy Ryoko Honda, Takanobu Kaido, Kenji Sugai et al. · Epilepsy & Behavior 7 Aug 2013 93
46 A homozygous mutation of voltage‐gated sodium channel β I gene SCN1B in a patient with Dravet syndrome Ikuo Ogiwara, Tojo Nakayama, Tetsushi Yamagata et al. · Epilepsia 13 Nov 2012 93
47 Mutational analysis ofCACNA1Gin idiopathic generalized epilepsy B. P. Singh, Arnaud Monteil, Isabelle Bidaud et al. · Human Mutation Open access 30 Mar 2007 92
48 Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex Akiyoshi Kakita, Shintaro Hayashi, Francesca Moro et al. · Acta Neuropathologica Dec 2002 90
49 Autoantibodies and Cell‐mediated Autoimmunity to NMDA‐type GluRɛ2 in Patients with Rasmussen's Encephalitis and Chronic Progressive Epilepsia Partialis Continua Yukitoshi Takahashi, Hisashi Mori, Masayoshi Mishina et al. · Epilepsia 29 Jun 2005 90
50 Epilepsy in the Elderly Toshio Hiyoshi, Kazuichi Yagi · Epilepsia Open access Sep 2000 89

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.