Pitfalls in genetic testing: The story of missed SCN1A mutations

Molecular Genetics and Genomic Medicine

Volumn 4, Issue 4, 2016, Pages 457-464

  Djémié, Tania ^a,b   Weckhuysen, Sarah ^a,b,c,d,e   Von Spiczak, Sarah ^f   Carvill, Gemma L ^g   Jaehn, Johanna ^f   Anttonen, Anna Kaisa ^h,i,j   Brilstra, Eva ^k   Caglayan, Hande S ^l   De Kovel, Carolien G ^k   Depienne, Christel ^c,d,e   Gaily, Eija ^j   Gennaro, Elena ^m   Giraldez, Beatriz G ^n,o   Gormley, Padhraig ^p,q,r   López, Rosa Guerrero ^o   Guerrini, Renzo ^s   Hämäläinen, Eija ^i,r   Hartmann, Corinna ^f   Hernandez, Laura Hernandez ^t,u   Hjalgrim, Helle ^v,w   Koeleman, Bobby P C ^k   Leguern, Eric ^c,d,e   Lehesjoki, Anna Elina ^h,i   Lemke, Johannes R ^x   Leu, Costin ^t   Marini, Carla ^s   McMahon, Jacinta M ^y   Mei, Davide ^s   Møller, Rikke S ^v,w   Muhle, Hiltrud ^f   Myers, Candace T ^g   Nava, Caroline ^c,d,e   Serratosa, Jose M ^n,o   Sisodiya, Sanjay M ^t,u   Stephani, Ulrich ^f   Striano, Pasquale ^z   Van Kempen, Marjan J A ^k   Verbeek, Nienke E ^k   Usluer, Sunay ^l   Zara, Federico ^aa   Palotie, Aarno ^i,q   Mefford, Heather C ^g   Scheffer, Ingrid E ^y,ab   Jonghe, Peter De ^ac   Helbig, Ingo ^f,ad   Suls, Arvid ^a,b,ae   more..

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c SORBONNE UNIVERSITÉ   (France)

^d INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^g UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^h FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

ⁱ UNIVERSITY OF HELSINKI   (Finland)

^j HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^k UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^l BOGAZICI UNIVERSITY   (Turkey)

^m GALLIERA HOSPITAL   (Italy)

ⁿ UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^o CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^p MASSACHUSETTS GENERAL HOSPITAL   (United States)

^q BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^r WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^s UNIVERSITY OF FLORENCE   (Italy)

^t UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^u EPILEPSY SOCIETY   (United Kingdom)

^v DANISH EPILEPSY CENTRE   (Denmark)

^w UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^x UNIVERSITY OF LEIPZIG   (Germany)

^y UNIVERSITY OF MELBOURNE   (Australia)

^z UNIVERSITY OF GENOA   (Italy)

^aa G GASLINI INSTITUTE   (Italy)

^ab FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^ac ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^ad CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^ae UNIVERSITY OF ANTWERP   (Belgium)

more..

Author keywords

Dravet syndrome; Epilepsy; Genetic screening; Next generation sequencing; Sanger sequencing

Indexed keywords

EID: 85013625371     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.217     Document Type: Article

References (19)

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