Works matching DE "GENETICS of epilepsy"

Results: 480

Erratum.

Published in:: Bosphorus Medical Journal / Boğaziçi Tıp Dergisi, 2025, v. 12, n. 1, p. 38, doi. 10.14744/bmj.2025.50480
Publication type:: Article

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02058-9

By:

Bai, Jinli;
Li, Ping;
Jiao, Hui;
Jin, Yuwei;
Wang, Hong;
Jiang, Qinglin;
Song, Fang;
Peng, Xiaoyin;
Qu, Yujin

Publication type:

Article

New Genetic Link to Epilepsy and Neurodevelopmental Disorders Discovered.

Published in:: Indian Practitioner, 2025, v. 78, n. 6, p. 9
Publication type:: Article

Six Clinical Predictors for Intractable Childhood Epilepsy.

Published in:

Journal of Pediatric Research, 2019, v. 6, n. 3, p. 213, doi. 10.4274/jpr.galenos.2019.93276

By:

Ayça, Senem;
Oral, Ramazan Deniz;
Dündar, Pınar Erbay;
Polat, Muzaffer

Publication type:

Article

From Genetics to Genomics of Epilepsy.

Published in:

Neurology Research International, 2012, p. 1, doi. 10.1155/2012/876234

By:

Garofalo, Silvio;
Cornacchione, Marisa;
Di Costanzo, Alfonso

Publication type:

Article

Changing Global Trends in Seizure Outcomes Following Resective Surgery for Tuberous Sclerosis in Children with Medically Intractable Epilepsy.

Published in:

Epilepsy Research & Treatment, 2012, p. 1, doi. 10.1155/2012/135364

By:

Ibrahim, George M.;
Fallah, Aria;
Snead, O. Carter;
Rutka, James T.

Publication type:

Article

Upregulation of Rho7 in the temporal lobe tissue of humans with intractable epilepsy.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 6, p. 9613, doi. 10.3892/mmr.2017.7787

By:

XINGLONG YANG;
BAIYUAN YANG;
HAONAN LI;
HUI REN

Publication type:

Article

Integrative analysis of gene expression associated with epilepsy in human epilepsy and animal models.

Published in:

Molecular Medicine Reports, 2016, v. 13, n. 6, p. 4920, doi. 10.3892/mmr.2016.5122

By:

HENGLING CHEN;
GUOZHENG XU;
HAO DU;
MINHAN YI;
CHENHONG LI

Publication type:

Article

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.

Published in:

2015

By:

Lumish, Heidi;
Wynn, Julia;
Devinsky, Orrin;
Chung, Wendy

Publication type:

Report

A Common Susceptibility Factor of Both Autism and Epilepsy: Functional Deficiency of GABA Receptors.

Published in:

Journal of Autism & Developmental Disorders, 2013, v. 43, n. 1, p. 68, doi. 10.1007/s10803-012-1543-7

By:

Kang, Jing-Qiong;
Barnes, Gregory

Publication type:

Article

Epilepsy in head injury.

Published in:

Neurology Asia, 2011, v. 16, n. S, p. 13

By:

Selladurai, B. M.

Publication type:

Article

Consanguinity and inherited epilepsies.

Published in:

Neurology Asia, 2011, v. 16, n. S, p. 11

By:

Jain, Satish

Publication type:

Article

Genetic testing for non-familial epilepsies.

Published in:

2010

By:

Weiping Liao;
Xiaorong Liu

Publication type:

Abstract

Ethics in the genetics of epilepsy: What are the pros and cons?

Published in:

Neurology Asia, 2010, v. 15, n. S1, p. 33

By:

Jain, Satish

Publication type:

Article

Generalized epilepsy with febrile seizures plus and classical idiopathic generalized epilepsy.

Published in:

Neurology Asia, 2010, v. 15, n. S1, p. 3

By:

Yue-hua Zhang;
Scheffer, Ingrid

Publication type:

Article

Ion Channels and the Genetic Contribution to Epilepsy.

Published in:

Journal of Child Neurology, 1999, v. 14, n. 1, p. 58

By:

Ryan, Stephen G.

Publication type:

Article

Disruption of Fgf13 Causes Synaptic Excitatory-Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 23, p. 8866, doi. 10.1523/JNEUROSCI.3470-14.2015

By:

Puranam, Ram S.;
Xiao Ping He;
Lijun Yao;
Tri Le;
Wonjo Jang;
Rehder, Catherine W.;
Lewis, Darrell V.;
McNamara, James O.

Publication type:

Article

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.

Published in:

Epilepsia (Series 4), 2019, v. 60, n. 5, p. 797, doi. 10.1111/epi.14698

By:

Berkovic, Samuel F.;
Goldstein, David B.;
Heinzen, Erin L.;
Laughlin, Brandon L.;
Lowenstein, Daniel H.;
Lubbers, Laura;
Stewart, Randall;
Whittemore, Vicky;
Angione, Kaitlin;
Bazil, Carl W.;
Bier, Louise;
Bluvstein, Judith;
Brimble, Elise;
Campbell, Colleen;
Cavalleri, Gianpiero;
Chambers, Chelsea;
Choi, Hyunmi;
Cilio, Maria Roberta;
Ciliberto, Michael;
Cornes, Susannah

Publication type:

Article

The spectrum of intermediate SCN8A‐related epilepsy.

Published in:

Epilepsia (Series 4), 2019, v. 60, n. 5, p. 830, doi. 10.1111/epi.14705

By:

Johannesen, Katrine M.;
Gardella, Elena;
Encinas, Alejandra C.;
Lehesjoki, Anna‐Elina;
Linnankivi, Tarja;
Petersen, Michael B.;
Lund, Ida Charlotte Bay;
Blichfeldt, Susanne;
Miranda, Maria J.;
Pal, Deb K.;
Lascelles, Karine;
Procopis, Peter;
Orsini, Alessandro;
Bonuccelli, Alice;
Giacomini, Thea;
Helbig, Ingo;
Fenger, Christina D.;
Sisodiya, Sanjay M.;
Hernandez‐Hernandez, Laura;
Krithika, Sundararaman

Publication type:

Article

Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 12, p. 2260, doi. 10.1111/epi.14600

By:

Trivisano, Marina;
Pietrafusa, Nicola;
Terracciano, Alessandra;
Marini, Carla;
Mei, Davide;
Darra, Francesca;
Accorsi, Patrizia;
Battaglia, Domenica;
Caffi, Lorella;
Canevini, Maria P.;
Cappelletti, Simona;
Cesaroni, Elisabetta;
Palma, Luca;
Costa, Paola;
Cusmai, Raffaella;
Giordano, Lucio;
Ferrari, Annarita;
Freri, Elena;
Fusco, Lucia;
Granata, Tiziana

Publication type:

Article

SLC6A1 variants identified in epilepsy patients reduce γ‐aminobutyric acid transport.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 9, p. e135, doi. 10.1111/epi.14531

By:

Mattison, Kari A.;
Butler, Kameryn M.;
Inglis, George Andrew S.;
Dayan, Oshrat;
Boussidan, Hanna;
Bhambhani, Vikas;
Philbrook, Bryan;
da Silva, Cristina;
Alexander, John J.;
Kanner, Baruch I.;
Escayg, Andrew

Publication type:

Article

Evidence of linkage to chromosome 5p13.2‐q11.1 in a large inbred family with genetic generalized epilepsy.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 8, p. e125, doi. 10.1111/epi.14506

By:

Kinay, Demet;
Oliver, Karen L.;
Tüzün, Erdem;
Damiano, John A.;
Ulusoy, Canan;
Andermann, Eva;
Hildebrand, Michael S.;
Bahlo, Melanie;
Berkovic, Samuel F.

Publication type:

Article

Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 8, p. 1595, doi. 10.1111/epi.14459

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Tallaksen, Chantal M. E.;
Brodtkorb, Eylert;
Fiskerstrand, Torunn;
Isohanni, Pirjo;
Uusimaa, Johanna;
Darin, Niklas;
Rahman, Shamima;
Bindoff, Laurence A.

Publication type:

Article

Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1138, doi. 10.1111/epi.14193

By:

the International League Against Epilepsy Genetics Commission;
Helbig, Ingo;
Heinzen, Erin L.;
Mefford, Heather C.

Publication type:

Article

Genetic generalized epilepsies.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1148, doi. 10.1111/epi.14042

By:

Berkovic, Samuel F.;
the ILAE Genetics Commission;
Mullen, Saul A.

Publication type:

Article

Can mutation‐mediated effects occurring early in development cause long‐term seizure susceptibility in genetic generalized epilepsies?

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 5, p. 915, doi. 10.1111/epi.14077

By:

Reid, Christopher Alan;
Rollo, Ben;
Petrou, Steven;
Berkovic, Samuel F.

Publication type:

Article

Commentary: The genetic architecture of the epilepsies, as told by 8500 gene panels.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 5, p. 1072, doi. 10.1111/epi.14075

By:

Helbig, Ingo

Publication type:

Article

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 5, p. 1062, doi. 10.1111/epi.14074

By:

Lindy, Amanda S.;
Stosser, Mary Beth;
Butler, Elizabeth;
Downtain‐Pickersgill, Courtney;
Shanmugham, Anita;
Retterer, Kyle;
Brandt, Tracy;
Richard, Gabriele;
McKnight, Dianalee A.

Publication type:

Article

The prescribable drugs with efficacy in experimental epilepsies (PDE3) database for drug repurposing research in epilepsy.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 2, p. 492, doi. 10.1111/epi.13994

By:

Sivapalarajah, Shayeeshan;
Krishnakumar, Mathangi;
Bickerstaffe, Harry;
Chan, YikYing;
Clarkson, Joseph;
Hampden‐Martin, Alistair;
Mirza, Ahmad;
Tanti, Matthew;
Marson, Anthony;
Pirmohamed, Munir;
Mirza, Nasir

Publication type:

Article

Defining the phenotypic spectrum of <italic>SLC6A1</italic> mutations.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 2, p. 389, doi. 10.1111/epi.13986

By:

Johannesen, Katrine M.;
Gardella, Elena;
Linnankivi, Tarja;
Courage, Carolina;
de Saint Martin, Anne;
Lehesjoki, Anna‐Elina;
Mignot, Cyril;
Afenjar, Alexandra;
Lesca, Gaetan;
Abi‐Warde, Marie‐Thérèse;
Chelly, Jamel;
Piton, Amélie;
Merritt, II, J. Lawrence;
Rodan, Lance H.;
Tan, Wen‐Hann;
Bird, Lynne M.;
Nespeca, Mark;
Gleeson, Joseph G.;
Yoo, Yongjin;
Choi, Murim

Publication type:

Article

Abnormal γ-aminobutyric acid neurotransmission in a Kcnq2 model of early onset epilepsy.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 8, p. 1430, doi. 10.1111/epi.13807

By:

Uchida, Taku;
Lossin, Christoph;
Ihara, Yukiko;
Deshimaru, Masanobu;
Yanagawa, Yuchio;
Koyama, Susumu;
Hirose, Shinichi

Publication type:

Article

Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2<sup> +/Q390X</sup> Dravet syndrome mice.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 8, p. 1451, doi. 10.1111/epi.13810

By:

Huang, Xuan;
Zhou, Chengwen;
Tian, Mengnan;
Kang, Jing ‐ Qiong;
Shen, Wangzhen;
Verdier, Kelienne;
Pimenta, Aurea;
MacDonald, Robert L.

Publication type:

Article

Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 8, p. e111, doi. 10.1111/epi.13811

By:

Calhoun, Jeffrey D.;
Hawkins, Nicole A.;
Zachwieja, Nicole J.;
Kearney, Jennifer A.

Publication type:

Article

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 8, p. 1415, doi. 10.1111/epi.13813

By:

Lim, Zhan;
Wong, Kingsley;
Olson, Heather E.;
Bergin, Ann M.;
Downs, Jenny;
Leonard, Helen

Publication type:

Article

Long-term outcome in adolescent-onset generalized genetic epilepsies.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 7, p. 1244, doi. 10.1111/epi.13761

By:

Vorderwülbecke, Bernd J.;
Kowski, Alexander B.;
Kirschbaum, Andrea;
Merkle, Hannah;
Senf, Philine;
Janz, Dieter;
Holtkamp, Martin

Publication type:

Article

Commentary: GATOR Complex-Associated Epilepsies.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 7, p. 1121, doi. 10.1111/epi.13789

By:

Lemke, Johannes R.

Publication type:

Article

An interview with Sarah Weckhuysen, 2017 Epilepsia Prize Winner for Clinical Research.

Published in:

2017

By:

Nehlig, Astrid;
Sperling, Michael;
Mathern, Gary;
Weckhuysen, Sarah

Publication type:

Interview

Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 7, p. 1190, doi. 10.1111/epi.13798

By:

Holland, Katherine D.;
Bouley, Thomas M.;
Horn, Paul S.

Publication type:

Article

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 2, p. e26, doi. 10.1111/epi.13649

By:

Myers, Kenneth A.;
Burgess, Rosemary;
Afawi, Zaid;
Damiano, John A.;
Berkovic, Samuel F.;
Hildebrand, Michael S.;
Scheffer, Ingrid E.

Publication type:

Article

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 11, p. 1858, doi. 10.1111/epi.13560

By:

Zerem, Ayelet;
Haginoya, Kazuhiro;
Lev, Dorit;
Blumkin, Lubov;
Kivity, Sara;
Linder, Ilan;
Shoubridge, Cheryl;
Palmer, Elizabeth Emma;
Field, Michael;
Boyle, Jackie;
Chitayat, David;
Gaillard, William D.;
Kossoff, Eric H.;
Willems, Marjolaine;
Geneviève, David;
Tran-Mau-Them, Frederic;
Epstein, Orna;
Heyman, Eli;
Dugan, Sarah;
Masurel-Paulet, Alice

Publication type:

Article

An integrative in silico system for predicting dysregulated genes in the human epileptic focus: Application to SLC transporters.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 9, p. 1467, doi. 10.1111/epi.13473

By:

Mirza, Nasir;
Vasieva, Olga;
Appleton, Richard;
Burn, Sasha;
Carr, Daniel;
Crooks, Daniel;
du Plessis, Daniel;
Duncan, Roderick;
Farah, Jibril Osman;
Josan, Vivek;
Miyajima, Fabio;
Mohanraj, Rajiv;
Shukralla, Arif;
Sills, Graeme J.;
Marson, Anthony G.;
Pirmohamed, Munir

Publication type:

Article

Commentary: 2016 Clinical Epilepsia Prize.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 9, p. 1345, doi. 10.1111/epi.13484

By:

Miller, David T.

Publication type:

Article

An interview with Saadet Mahmutoglu, 2016 Epilepsia prize winner for Clinical Research.

Published in:

2016

By:

Nehlig, Astrid;
Sperling, Michael;
Mathern, Gary

Publication type:

Editorial

New ILAE versus previous clinical status epilepticus semiologic classification: Analysis of a hospital-based cohort.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 7, p. 1036, doi. 10.1111/epi.13403

By:

Rossetti, Andrea O.;
Trinka, Eugen;
Stähli, Christine;
Novy, Jan

Publication type:

Article

SCN8A encephalopathy: Research progress and prospects.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 7, p. 1027, doi. 10.1111/epi.13422

By:

Meisler, Miriam H.;
Helman, Guy;
Hammer, Michael F.;
Fureman, Brandy E.;
Gaillard, William D.;
Goldin, Alan L.;
Hirose, Shinichi;
Ishii, Atsushi;
Kroner, Barbara L.;
Lossin, Christoph;
Mefford, Heather C.;
Parent, Jack M.;
Patel, Manoj;
Schreiber, John;
Stewart, Randall;
Whittemore, Vicky;
Wilcox, Karen;
Wagnon, Jacy L;
Pearl, Phillip L.;
Vanderver, Adeline

Publication type:

Article

Primer Part 1-The building blocks of epilepsy genetics.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 6, p. 861, doi. 10.1111/epi.13381

By:

Helbig, Ingo;
Heinzen, Erin L.;
Mefford, Heather C.;
Berkovic, Samuel F;
Lowenstein, Daniel H;
Kato, Mitsuhiro;
Helen Cross, J.;
Satishchandra, P.;
De Jonghe, Peter;
Jiang, Yuwu;
Goldman, Alicia;
Petrou, Steve;
Tan, Nigel

Publication type:

Article

Targeting of micro RNA-199a-5p protects against pilocarpine-induced status epilepticus and seizure damage via SIRT1-p53 cascade.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 5, p. 706, doi. 10.1111/epi.13348

By:

Wang, Dong;
Li, Zhenlu;
Zhang, Yukun;
Wang, Guangzhi;
Wei, Minghai;
Hu, Yan;
Ma, Shuo;
Jiang, Yue;
Che, Ningwei;
Wang, Xiaofeng;
Yao, Jihong;
Yin, Jian

Publication type:

Article

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.

Published in:

Epilepsia (Series 4), 2016, v. 57, p. 17, doi. 10.1111/epi.13232

By:

Goldman, Alica M.;
Behr, Elijah R.;
Semsarian, Christopher;
Bagnall, Richard D.;
Sisodiya, Sanjay;
Cooper, Paul N.

Publication type:

Article

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 1, p. e12, doi. 10.1111/epi.13250

By:

Allen, Nicholas M.;
Conroy, Judith;
Shahwan, Amre;
Lynch, Bryan;
Correa, Raony G.;
Pena, Sergio D. J.;
McCreary, Dara;
Magalhães, Tiago R.;
Ennis, Sean;
Lynch, Sally A.;
King, Mary D.

Publication type:

Article

LQT, HCN, and epilepsy model.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 11, p. 1855, doi. 10.1111/epi.13188

By:

Kodirov, Sodikdjon A.

Publication type:

Article