SCN1A c.5195C>T ;(p.P1732L)

Variant ID: 2-166848590-G-A

NM_001165963.1(SCN1A):c.5195C>T;(p.P1732L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.

Journal Of Epilepsy Research
Rahman, Md Mizanur MM; Fatema, Kanij K
Publication Date: 2021-06

Variant appearance in text: SCN1A: 5195C>T
PubMed Link: 34395220
Variant Present in the following documents:
  • Main text
  • jer-21004.pdf
View BVdb publication page



Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations.

Case Reports In Medicine
Alame, Saada S; El-Houwayek, Eliane E; Nava, Caroline C; Sabbagh, Sandra S; Fawaz, Ali A; Gillart, Anne-Celine AC; Hasbini, Dana D; Depienne, Christel C; Mégarbané, André A
Publication Date: 2019

Variant appearance in text: SCN1A: 5195C>T
PubMed Link: 30805006
Variant Present in the following documents:
  • Main text
  • CRIM2019-5270503.pdf
View BVdb publication page



Pitfalls in genetic testing: the story of missed SCN1A mutations.

Molecular Genetics & Genomic Medicine
Djémié, Tania T; Weckhuysen, Sarah S; von Spiczak, Sarah S; Carvill, Gemma L GL; Jaehn, Johanna J; Anttonen, Anna-Kaisa AK; Brilstra, Eva E; Caglayan, Hande S HS; de Kovel, Carolien G CG; Depienne, Christel C; Gaily, Eija E; Gennaro, Elena E; Giraldez, Beatriz G BG; Gormley, Padhraig P; Guerrero-López, Rosa R; Guerrini, Renzo R; Hämäläinen, Eija E; Hartmann, Corinna C; Hernandez-Hernandez, Laura L; Hjalgrim, Helle H; Koeleman, Bobby P C BP; Leguern, Eric E; Lehesjoki, Anna-Elina AE; Lemke, Johannes R JR; Leu, Costin C; Marini, Carla C; McMahon, Jacinta M JM; Mei, Davide D; Møller, Rikke S RS; Muhle, Hiltrud H; Myers, Candace T CT; Nava, Caroline C; Serratosa, Jose M JM; Sisodiya, Sanjay M SM; Stephani, Ulrich U; Striano, Pasquale P; van Kempen, Marjan J A MJ; Verbeek, Nienke E NE; Usluer, Sunay S; Zara, Federico F; Palotie, Aarno A; Mefford, Heather C HC; Scheffer, Ingrid E IE; De Jonghe, Peter P; Helbig, Ingo I; Suls, Arvid A; ,
Publication Date: 2016-07

Variant appearance in text: SCN1A: 5195C>T; Pro1732Leu
PubMed Link: 27465585
Variant Present in the following documents:
  • Main text
  • MGG3-4-457.pdf
View BVdb publication page