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Select item 35119251.

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Ingrid E. Scheffer, Bronwyn E. Grinton, Sarah E. Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg-Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G. Sadleir, Samuel F. Berkovic, Leanne M. Dibbens

Neurology. 2012 Nov 20; 79(21): 2104–2108. doi: 10.1212/WNL.0b013e3182752c6c

PMCID:: PMC3511925

Abstract Article PDF–312K

Select item 58889292.

PRRT2 controls neuronal excitability by negatively modulating Na⁺ channel 1.2/1.6 activity

Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi, Alicia Rubio, Antonio Gambardella, Thierry Nieus, Vania Broccoli, Anna Fassio, Pietro Baldelli, Anna Corradi, Federico Zara, Fabio Benfenati

Brain. 2018 Apr; 141(4): 1000–1016. Published online 2018 Mar 15. doi: 10.1093/brain/awy051

PMCID:: PMC5888929

Abstract Article PDF–2.1M

Select item 57546473.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V. Gazina, Apostolos Papandreou, Adeline Ngoh, Sally Ackermann, Gautam Ambegaonkar, Richard Appleton, Archana Desurkar, Christin Eltze, Rachel Kneen, Ajith V. Kumar, Karine Lascelles, Tara Montgomery, Venkateswaran Ramesh, Rajib Samanta, Richard H. Scott, Jeen Tan, William Whitehouse, Annapurna Poduri, Ingrid E. Scheffer, W.K. “Kling” Chong, J. Helen Cross, Maya Topf, Steven Petrou, Manju A. Kurian

Neurology. 2018 Jan 2; 90(1): e55–e66. doi: 10.1212/WNL.0000000000004762

PMCID:: PMC5754647

Abstract Article PDF–1.4M

Select item 56042974.

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu

BMC Med Genet. 2017; 18: 104. Published online 2017 Sep 18. doi: 10.1186/s12881-017-0460-1

PMCID:: PMC5604297

Abstract Article PDF–1.4M

Select item 50101015.

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Saeko Ishida, Fabienne Picard, Gabrielle Rudolf, Eric Noé, Guillaume Achaz, Pierre Thomas, Pierre Genton, Emeline Mundwiller, Markus Wolff, Christian Marescaux, Richard Miles, Michel Baulac, Edouard Hirsch, Eric Leguern, Stéphanie Baulac

Nat Genet. Author manuscript; available in PMC 2016 Sep 2.

Published in final edited form as: Nat Genet. 2013 May; 45(5): 552–555. Published online 2013 Mar 31. doi: 10.1038/ng.2601

PMCID:: PMC5010101

Abstract Article PDF–850K

Select item 44082866.

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

Valerio Conti, Patrizia Aracri, Laura Chiti, Simone Brusco, Francesco Mari, Carla Marini, Maria Albanese, Angela Marchi, Claudio Liguori, Fabio Placidi, Andrea Romigi, Andrea Becchetti, Renzo Guerrini

Neurology. 2015 Apr 14; 84(15): 1520–1528. doi: 10.1212/WNL.0000000000001471

PMCID:: PMC4408286

Abstract Article PDF–1.0M

Select item 43681177.

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

Toshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, Yuta Komoike, Atsushi Ishii, Shinpei Abe, Shintaro Yamashita, Katsumi Imai, Tetsuo Kubota, Tatsuya Fukasawa, Tohru Okanishi, Hideo Enoki, Takuya Tanabe, Akira Saito, Toru Furukawa, Toshiaki Shimizu, Carol J. Milligan, Steven Petrou, Sarah E. Heron, Leanne M. Dibbens, Shinichi Hirose, Akihisa Okumura

PLoS One. 2015; 10(3): e0118946. Published online 2015 Mar 20. doi: 10.1371/journal.pone.0118946

PMCID:: PMC4368117

Abstract Article PDF–512K

Select item 41586178.

KCNT1 gain-of-function in two epilepsy phenotypes is reversed by quinidine

Carol J. Milligan, Melody Li, Elena V. Gazina, Sarah E. Heron, Umesh Nair, Chantel Trager, Christopher A. Reid, Anu Venkat, Donald P. Younkin, Dennis J. Dlugos, Slavé Petrovski, David B. Goldstein, Leanne M. Dibbens, Ingrid E. Scheffer, Samuel F Berkovic, Steven Petrou

Ann Neurol. Author manuscript; available in PMC 2015 Apr 14.

Published in final edited form as: Ann Neurol. 2014 Apr; 75(4): 581–590. Published online 2014 Apr 14. doi: 10.1002/ana.24128

PMCID:: PMC4158617

Abstract Article PDF–2.6M

Select item 36238619.

Functional Characterization of a CRH Missense Mutation Identified in an ADNFLE Family

Veronica Sansoni, Matilde Forcella, Alessandra Mozzi, Paola Fusi, Roberto Ambrosini, Luigi Ferini-Strambi, Romina Combi

PLoS One. 2013; 8(4): e61306. Published online 2013 Apr 11. doi: 10.1371/journal.pone.0061306

PMCID:: PMC3623861

Abstract Article PDF–493K

Select item 623623310.

16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability

Wen Li, Yifan Wang, Bin Li, Bin Tang, Hui Sun, Jinxing Lai, Na He, Bingmei Li, Heng Meng, Weiping Liao, Xiaorong Liu

Brain Behav. 2018 Nov; 8(11): e01134. Published online 2018 Oct 11. doi: 10.1002/brb3.1134

PMCID:: PMC6236233

Abstract Article PDF–754K

Select item 223132611.

Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response

Antonio Figl, Nareerat Viseshakul, Navid Shafaee, John Forsayeth, Bruce N Cohen

J Physiol. 1998 Dec 15; 513(Pt 3): 655–670. doi: 10.1111/j.1469-7793.1998.655ba.x

PMCID:: PMC2231326

Abstract Article PDF–747K

Select item 171598112.

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

P Szepetowski, J Rochette, P Berquin, C Piussan, G M Lathrop, A P Monaco

Am J Hum Genet. 1997 Oct; 61(4): 889–898. doi: 10.1086/514877

PMCID:: PMC1715981

Summary Page Browse PDF–1.5M

Select item 157341513.

Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy

M O Ortells, G E Barrantes

Br J Pharmacol. 2002 Jul; 136(6): 883–895. doi: 10.1038/sj.bjp.0704786

PMCID:: PMC1573415

Abstract Article PDF–329K

Select item 157100614.

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

S Bertrand, S Weiland, S F Berkovic, O K Steinlein, D Bertrand

Br J Pharmacol. 1998 Oct; 125(4): 751–760. doi: 10.1038/sj.bjp.0702154

PMCID:: PMC1571006

Summary PDF–369K

Select item 155950215.

Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, Fausta Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqualetti, Andrea Becchetti, Renzo Guerrini, Giorgio Casari

Am J Hum Genet. 2006 Aug; 79(2): 342–350. Published online 2006 Jun 26. doi: 10.1086/506459

PMCID:: PMC1559502

Abstract Article PDF–1.3M

Select item 137748016.

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

H A Phillips, I E Scheffer, K M Crossland, K P Bhatia, D R Fish, C D Marsden, S J Howell, J B Stephenson, J Tolmie, G Plazzi, O Eeg-Olofsson, R Singh, I Lopes-Cendes, E Andermann, F Andermann, S F Berkovic, J C Mulley

Am J Hum Genet. 1998 Oct; 63(4): 1108–1116. doi: 10.1086/302047

PMCID:: PMC1377480

Summary PDF–681K

Select item 128838017.

Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1

Hiro-aki Tomita, Shinichiro Nagamitsu, Keiko Wakui, Yoshimitsu Fukushima, Koki Yamada, Miyuki Sadamatsu, Akira Masui, Tohru Konishi, Toyojiro Matsuishi, Masao Aihara, Katsunori Shimizu, Kiyoshi Hashimoto, Mari Mineta, Michihito Matsushima, Takahiro Tsujita, Masaaki Saito, Hajime Tanaka, Shoji Tsuji, Toshihisa Takagi, Yusuke Nakamura, Shinichiro Nanko, Nobumasa Kato, Yoshibumi Nakane, Norio Niikawa

Am J Hum Genet. 1999 Dec; 65(6): 1688–1697. Published online 1999 Nov 18. doi: 10.1086/302682

PMCID:: PMC1288380

Abstract Article PDF–405K

Select item 122614018.

Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity

Michela Malacarne, Elena Gennaro, Francesca Madia, Sarah Pozzi, Daniela Vacca, Baldassare Barone, Bernardo dalla Bernardina, Amedeo Bianchi, Paolo Bonanni, Pasquale De Marco, Antonio Gambardella, Lucio Giordano, Maria Luisa Lispi, Antonino Romeo, Enrica Santorum, Francesca Vanadia, Marilena Vecchi, Pierangelo Veggiotti, Federico Vigevano, Franco Viri, Franca Dagna Bricarelli, Federico Zara

Am J Hum Genet. 2001 Jun; 68(6): 1521–1526. Published online 2001 Apr 20. doi: 10.1086/320596

PMCID:: PMC1226140

Abstract Article PDF–139K

Select item 750736519.

Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy

Jiwon Lee, Chung Lee, Chang‐Seok Ki, Jeehun Lee

Mol Genet Genomic Med. 2020 Sep; 8(9): e1376. Published online 2020 Jul 1. doi: 10.1002/mgg3.1376

PMCID:: PMC7507365

Abstract Article PDF–1.0M

Select item 1041421020.

The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome

Jennifer G. Andrews, Maureen Kelly Galindo, Joshua B. Hack, Joseph C. Watkins, Gabrielle A. Conecker, Michael F. Hammer, The SCN8A Research Consortium

J Registry Manag. 2023 Spring; 50(1): 4–10. Published online 2023 Mar 1.

PMCID:: PMC10414210

Abstract Article PDF–399K

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