Published 2016
| Version v1
Publication
Pitfalls in genetic testing: the story of missed SCN1A mutations
- Creators
- Djémié, Tania
- Weckhuysen, Sarah
- von Spiczak, Sarah
- Carvill, Gemma L
- Jaehn, Johanna
- Anttonen, Anna Kaisa
- Brilstra, Eva
- Caglayan, Hande S
- de Kovel, Carolien G
- Depienne, Christel
- Gaily, Eija
- Gennaro, Elena
- Giraldez, Beatriz G
- Gormley, Padhraig
- Guerrero López, Rosa
- Guerrini, Renzo
- Hämäläinen, Eija
- Hartmann, Corinna
- Hernandez Hernandez, Laura
- Hjalgrim, Helle
- Koeleman, Bobby P. C
- Leguern, Eric
- Lehesjoki, Anna Elina
- Lemke, Johannes R
- Leu, Costin
- Marini, Carla
- Mcmahon, Jacinta M
- Mei, Davide
- Møller, Rikke S
- Muhle, Hiltrud
- Myers, Candace T
- Nava, Caroline
- Serratosa, Jose M
- Sisodiya, Sanjay M
- Stephani, Ulrich
- STRIANO, PASQUALE
- van Kempen, Marjan J. A
- Verbeek, Nienke E
- Usluer, Sunay
- ZARA, FEDERICO
- Palotie, Aarno
- Mefford, Heather C
- Scheffer, Ingrid E
- De Jonghe, Peter
- Helbig, Ingo
- Suls, Arvid
- Others:
- Djémié, Tania
- Weckhuysen, Sarah
- von Spiczak, Sarah
- Carvill, Gemma L
- Jaehn, Johanna
- Anttonen, Anna Kaisa
- Brilstra, Eva
- Caglayan, Hande S
- de Kovel, Carolien G
- Depienne, Christel
- Gaily, Eija
- Gennaro, Elena
- Giraldez, Beatriz G
- Gormley, Padhraig
- Guerrero López, Rosa
- Guerrini, Renzo
- Hämäläinen, Eija
- Hartmann, Corinna
- Hernandez Hernandez, Laura
- Hjalgrim, Helle
- Koeleman, Bobby P. C
- Leguern, Eric
- Lehesjoki, Anna Elina
- Lemke, Johannes R
- Leu, Costin
- Marini, Carla
- Mcmahon, Jacinta M
- Mei, Davide
- Møller, Rikke S
- Muhle, Hiltrud
- Myers, Candace T
- Nava, Caroline
- Serratosa, Jose M
- Sisodiya, Sanjay M
- Stephani, Ulrich
- Striano, Pasquale
- van Kempen, Marjan J. A
- Verbeek, Nienke E
- Usluer, Sunay
- Zara, Federico
- Palotie, Aarno
- Mefford, Heather C
- Scheffer, Ingrid E
- De Jonghe, Peter
- Helbig, Ingo
- Suls, Arvid
Description
Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations.
Additional details
- URL
- http://hdl.handle.net/11567/854833
- URN
- urn:oai:iris.unige.it:11567/854833
- Origin repository
- UNIGE