Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SCN1A: 434T>C; Met145Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.

Cells

Zayat, Valery V; Szlendak, Roza R; Hoffman-Zacharska, Dorota D

Publication Date: 2022-10-04

Variant appearance in text: SCN1A: Met145Thr

PubMed Link: 36231081

Variant Present in the following documents:

• Main text

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The effect of alterations of schizophrenia-associated genes on gamma band oscillations.

Schizophrenia (Heidelberg, Germany)

Metzner, Christoph C; Mäki-Marttunen, Tuomo T; Karni, Gili G; McMahon-Cole, Hana H; Steuber, Volker V

Publication Date: 2022-04-28

Variant appearance in text: SCN1A: M145T

PubMed Link: 35854005

Variant Present in the following documents:

• 41537_2022_255_MOESM1_ESM.pdf

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Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal Activity.

Biomedicines

Scalise, Stefania S; Zannino, Clara C; Lucchino, Valeria V; Lo Conte, Michela M; Scaramuzzino, Luana L; Cifelli, Pierangelo P; D'Andrea, Tiziano T; Martinello, Katiuscia K; Fucile, Sergio S; Palma, Eleonora E; Gambardella, Antonio A; Ruffolo, Gabriele G; Cuda, Giovanni G; Parrotta, Elvira Immacolata EI

Publication Date: 2022-05-05

Variant appearance in text: SCN1A: 434T>C

PubMed Link: 35625812

Variant Present in the following documents:

• Main text
• biomedicines-10-01075.pdf

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Molecular typing of familial temporal lobe epilepsy.

World Journal Of Psychiatry

Liu, Chao C; Qiao, Xiao-Zhi XZ; Wei, Zi-Han ZH; Cao, Mi M; Wu, Zhen-Yu ZY; Deng, Yan-Chun YC

Publication Date: 2022-01-19

Variant appearance in text: SCN1A: M145T

PubMed Link: 35111581

Variant Present in the following documents:

• Main text
• WJP-12-98.pdf

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: M145T

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.

Journal Of Central Nervous System Disease

Xu, Changqing C; Zhang, Yumin Y; Gozal, David D; Carney, Paul P

Publication Date: 2021

Variant appearance in text: SCN1A: M145T

PubMed Link: 34992485

Variant Present in the following documents:

• Main text
• 10.1177_11795735211048045.pdf

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Deciphering in silico the Role of Mutated Na 1.1 Sodium Channels in Enhancing Trigeminal Nociception in Familial Hemiplegic Migraine Type 3.

Frontiers In Cellular Neuroscience

Suleimanova, Alina A; Talanov, Max M; van den Maagdenberg, Arn M J M AMJM; Giniatullin, Rashid R

Publication Date: 2021

Variant appearance in text: Nav1.1: M145T

PubMed Link: 34135733

Variant Present in the following documents:

• Main text
• fncel-15-644047.pdf
• Data_Sheet_1.pdf

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Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Frontiers In Pharmacology

Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF

Publication Date: 2020

Variant appearance in text: SCN1A: M145T

PubMed Link: 33013363

Variant Present in the following documents:

• Main text
• fphar-11-01276.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SCN1A: 434T>C; Met145Thr

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Modulation of GABAergic dysfunction due to SCN1A mutation linked to Hippocampal Sclerosis.

Annals Of Clinical And Translational Neurology

Ruffolo, Gabriele G; Martinello, Katiuscia K; Labate, Angelo A; Cifelli, Pierangelo P; Fucile, Sergio S; Di Gennaro, Giancarlo G; Quattrone, Andrea A; Esposito, Vincenzo V; Limatola, Cristina C; Giangaspero, Felice F; Aronica, Eleonora E; Palma, Eleonora E; Gambardella, Antonio A

Publication Date: 2020-09

Variant appearance in text: SCN1A: M145T

PubMed Link: 32761786

Variant Present in the following documents:

• Main text
• ACN3-7-1726.pdf

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Computational Modeling of Genetic Contributions to Excitability and Neural Coding in Layer V Pyramidal Cells: Applications to Schizophrenia Pathology.

Frontiers In Computational Neuroscience

Mäki-Marttunen, Tuomo T; Devor, Anna A; Phillips, William A WA; Dale, Anders M AM; Andreassen, Ole A OA; Einevoll, Gaute T GT

Publication Date: 2019

Variant appearance in text: SCN1A: M145T

PubMed Link: 31616272

Variant Present in the following documents:

• Data_Sheet_1.pdf

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Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.

Translational Psychiatry

Mäki-Marttunen, Tuomo T; Lines, Glenn T GT; Edwards, Andrew G AG; Tveito, Aslak A; Dale, Anders M AM; Einevoll, Gaute T GT; Andreassen, Ole A OA

Publication Date: 2017-11-17

Variant appearance in text: SCN1A: M145T

PubMed Link: 30446648

Variant Present in the following documents:

• Main text
• 41398_2017_7_MOESM1_ESM.pdf

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 434T>C; Met145Thr

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: SCN1A: 434T>C; M145T

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 1

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: M145T

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: M145T; rs121918631

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: M145T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Brain : A Journal Of Neurology

Kasperaviciute, Dalia D; Catarino, Claudia B CB; Matarin, Mar M; Leu, Costin C; Novy, Jan J; Tostevin, Anna A; Leal, Bárbara B; Hessel, Ellen V S EV; Hallmann, Kerstin K; Hildebrand, Michael S MS; Dahl, Hans-Henrik M HH; Ryten, Mina M; Trabzuni, Daniah D; Ramasamy, Adaikalavan A; Alhusaini, Saud S; Doherty, Colin P CP; Dorn, Thomas T; Hansen, Jörg J; Krämer, Günter G; Steinhoff, Bernhard J BJ; Zumsteg, Dominik D; Duncan, Susan S; Kälviäinen, Reetta K RK; Eriksson, Kai J KJ; Kantanen, Anne-Mari AM; Pandolfo, Massimo M; Gruber-Sedlmayr, Ursula U; Schlachter, Kurt K; Reinthaler, Eva M EM; Stogmann, Elisabeth E; Zimprich, Fritz F; Théâtre, Emilie E; Smith, Colin C; O'Brien, Terence J TJ; Meng Tan, K K; Petrovski, Slave S; Robbiano, Angela A; Paravidino, Roberta R; Zara, Federico F; Striano, Pasquale P; Sperling, Michael R MR; Buono, Russell J RJ; Hakonarson, Hakon H; Chaves, João J; Costa, Paulo P PP; Silva, Berta M BM; da Silva, António M AM; de Graan, Pierre N E PN; Koeleman, Bobby P C BP; Becker, Albert A; Schoch, Susanne S; von Lehe, Marec M; Reif, Philipp S PS; Rosenow, Felix F; Becker, Felicitas F; Weber, Yvonne Y; Lerche, Holger H; Rössler, Karl K; Buchfelder, Michael M; Hamer, Hajo M HM; Kobow, Katja K; Coras, Roland R; Blumcke, Ingmar I; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Weale, Michael E ME; , ; Delanty, Norman N; Depondt, Chantal C; Cavalleri, Gianpiero L GL; Kunz, Wolfram S WS; Sisodiya, Sanjay M SM

Publication Date: 2013-10

Variant appearance in text: SCN1A: M145T

PubMed Link: 24014518

Variant Present in the following documents:

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A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Mashimo, Tomoji T; Ohmori, Iori I; Ouchida, Mamoru M; Ohno, Yukihiro Y; Tsurumi, Toshiko T; Miki, Takafumi T; Wakamori, Minoru M; Ishihara, Shizuka S; Yoshida, Takashi T; Takizawa, Akiko A; Kato, Megumi M; Hirabayashi, Masumi M; Sasa, Masashi M; Mori, Yasuo Y; Serikawa, Tadao T

Publication Date: 2010-04-21

Variant appearance in text: FEB3: M145T

PubMed Link: 20410126

Variant Present in the following documents:

• Main text

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Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Rusconi, Raffaella R; Scalmani, Paolo P; Cassulini, Rita Restano RR; Giunti, Giulia G; Gambardella, Antonio A; Franceschetti, Silvana S; Annesi, Grazia G; Wanke, Enzo E; Mantegazza, Massimo M

Publication Date: 2007-10-10

Variant appearance in text: SMEI: M145T

PubMed Link: 17928445

Variant Present in the following documents:

• Main text

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Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Mantegazza, Massimo M; Gambardella, Antonio A; Rusconi, Raffaella R; Schiavon, Emanuele E; Annesi, Ferdinanda F; Cassulini, Rita Restano RR; Labate, Angelo A; Carrideo, Sara S; Chifari, Rosanna R; Canevini, Maria Paola MP; Canger, Raffaele R; Franceschetti, Silvana S; Annesi, Grazia G; Wanke, Enzo E; Quattrone, Aldo A

Publication Date: 2005-12-13

Variant appearance in text: SCN1A: Met145Thr

PubMed Link: 16326807

Variant Present in the following documents:

• Main text

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