Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs7587026

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.

Annals Of Medicine

Alghamdi, Mansour A MA; Al-Eitan, Laith N LN; Asiri, Ashwag A; Rababa'h, Doaa M DM; Alqahtani, Sultan A SA; Aldarami, Mohammed S MS; Alsaeedi, Manar A MA; Almuidh, Raghad S RS; Alzahrani, Abdulbari A AA; Sakah, Ahmad H AH; El Nashar, Eman Mohamad EM; Otaif, Mansour Y MY; Abdel Ghaffar, Nawal F NF

Publication Date: 2022-12

Variant appearance in text: rs7587026

PubMed Link: 35801810

Variant Present in the following documents:

• Main text
• IANN_54_2096257.pdf

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KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizures.

Asn Neuro

Dimitrijevic, Sanja S; Jekic, Biljana B; Cvjeticanin, Suzana S; Tucovic, Aleksandra A; Filipovic, Tamara T; Novaković, Ivana I; Ivić, Bojana B; Nikolic, Dimitrije D

Publication Date: 2022

Variant appearance in text: rs7587026

PubMed Link: 35414199

Variant Present in the following documents:

• Main text
• 10.1177_17590914221093257.pdf

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Parallel functional testing identifies enhancers active in early postnatal mouse brain.

Elife

Lambert, Jason T JT; Su-Feher, Linda L; Cichewicz, Karol K; Warren, Tracy L TL; Zdilar, Iva I; Wang, Yurong Y; Lim, Kenneth J KJ; Haigh, Jessica L JL; Morse, Sarah J SJ; Canales, Cesar P CP; Stradleigh, Tyler W TW; Castillo Palacios, Erika E; Haghani, Viktoria V; Moss, Spencer D SD; Parolini, Hannah H; Quintero, Diana D; Shrestha, Diwash D; Vogt, Daniel D; Byrne, Leah C LC; Nord, Alex S AS

Publication Date: 2021-10-04

Variant appearance in text: rs7587026

PubMed Link: 34605404

Variant Present in the following documents:

• Main text
• elife-69479.pdf

View BVdb publication page

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Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

International Journal Of Molecular Sciences

Thakran, Sarita S; Guin, Debleena D; Singh, Pooja P; Singh, Priyanka P; Kukal, Samiksha S; Rawat, Chitra C; Yadav, Saroj S; Kushwaha, Suman S SS; Srivastava, Achal K AK; Hasija, Yasha Y; Saso, Luciano L; Ramachandran, Srinivasan S; Kukreti, Ritushree R

Publication Date: 2020-10-21

Variant appearance in text: rs7587026

PubMed Link: 33096746

Variant Present in the following documents:

• Main text
• ijms-21-07784.pdf

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Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy.

Biomed Research International

Lu, Yuan Y; Su, Quanping Q; Li, Ming M; Dayimu, Alimu A; Dai, Xiaoyu X; Wang, Zhiheng Z; Che, Fengyuan F; Xue, Fuzhong F

Publication Date: 2020

Variant appearance in text: rs7587026

PubMed Link: 32185219

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transcriptional Regulation of Channelopathies in Genetic and Acquired Epilepsies.

Frontiers In Cellular Neuroscience

van Loo, Karen M J KMJ; Becker, Albert J AJ

Publication Date: 2019

Variant appearance in text: rs7587026

PubMed Link: 31992970

Variant Present in the following documents:

• Main text
• fncel-13-00587.pdf

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Improving the odds of drug development success through human genomics: modelling study.

Scientific Reports

Hingorani, Aroon D AD; Kuan, Valerie V; Finan, Chris C; Kruger, Felix A FA; Gaulton, Anna A; Chopade, Sandesh S; Sofat, Reecha R; MacAllister, Raymond J RJ; Overington, John P JP; Hemingway, Harry H; Denaxas, Spiros S; Prieto, David D; Casas, Juan Pablo JP

Publication Date: 2019-12-11

Variant appearance in text: rs7587026

PubMed Link: 31827124

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54849.pdf

View BVdb publication page

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2017 Annual Meetings.

Annals Of Neurology

Publication Date: 2017-10

Variant appearance in text: rs7587026

PubMed Link: 29032633

Variant Present in the following documents:

• ANA-82-S1.pdf

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Common variants associated with general and MMR vaccine-related febrile seizures.

Nature Genetics

Feenstra, Bjarke B; Pasternak, Björn B; Geller, Frank F; Carstensen, Lisbeth L; Wang, Tongfei T; Huang, Fen F; Eitson, Jennifer L JL; Hollegaard, Mads V MV; Svanström, Henrik H; Vestergaard, Mogens M; Hougaard, David M DM; Schoggins, John W JW; Jan, Lily Yeh LY; Melbye, Mads M; Hviid, Anders A

Publication Date: 2014-12

Variant appearance in text: rs7587026

PubMed Link: 25344690

Variant Present in the following documents:

• nihms633400.pdf

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SCN1A and Febrile Seizures in Mesial Temporal Epilepsy: An Early Signal to Guide Prognosis and Treatment?

Epilepsy Currents

Rossi, Marvin A MA

Publication Date: 2014-07

Variant appearance in text: rs7587026

PubMed Link: 25170313

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.

The Lancet. Neurology

,

Publication Date: 2014-09

Variant appearance in text: rs7587026

PubMed Link: 25087078

Variant Present in the following documents:

• Main text
• mmc1.pdf

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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: rs7587026

PubMed Link: 24014518

Variant Present in the following documents:

• Main text
• awt233.pdf

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Framingham Heart Study genome-wide association: results for pulmonary function measures.

Bmc Medical Genetics

Wilk, Jemma B JB; Walter, Robert E RE; Laramie, Jason M JM; Gottlieb, Daniel J DJ; O'Connor, George T GT

Publication Date: 2007-09-19

Variant appearance in text: rs7587026

PubMed Link: 17903307

Variant Present in the following documents:

• Main text
• 1471-2350-8-S1-S8.pdf

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