Publications:

SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility.

Acta Neuropathologica

Silvennoinen, Katri K; Gawel, Kinga K; Tsortouktzidis, Despina D; Pitsch, Julika J; Alhusaini, Saud S; van Loo, Karen M J KMJ; Picardo, Richard R; Michalak, Zuzanna Z; Pagni, Susanna S; Martins Custodio, Helena H; Mills, James J; Whelan, Christopher D CD; de Zubicaray, Greig I GI; McMahon, Katie L KL; van der Ent, Wietske W; Kirstein-Smardzewska, Karolina J KJ; Tiraboschi, Ettore E; Mudge, Jonathan M JM; Frankish, Adam A; Thom, Maria M; Wright, Margaret J MJ; Thompson, Paul M PM; Schoch, Susanne S; Becker, Albert J AJ; Esguerra, Camila V CV; Sisodiya, Sanjay M SM

Publication Date: 2022-07

Variant appearance in text: rs922224

PubMed Link: 35551471

Variant Present in the following documents:

• Main text
• 401_2022_Article_2429.pdf

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs922224

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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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: rs922224

PubMed Link: 24014518

Variant Present in the following documents:

• Main text
• awt233.pdf

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