Gene panel testing in epileptic encephalopathies and familial epilepsies

Molecular Syndromology

Volumn 7, Issue 4, 2016, Pages 210-219

  Møller, Rikke S ^a,b   Larsen, Line H G ^c   Johannesen, Katrine M ^a,b   Talvik, Inga ^k,l   Talvik, Tiina ^l,m   Vaher, Ulvi ^l,m   Miranda, Maria J ^d   Farooq, Muhammad ^j,n   Nielsen, Jens E K ^e   Lavard Svendsen, Lene ^f   Kjelgaard, Ditte B ^a   Linnet, Karen M ^g   Hao, Qin ^c   Uldall, Peter ^a   Frangu, Mimoza ^h   Tommerup, Niels ^j   Baig, Shahid M ⁿ   Abdullah, Uzma ^j,n   Born, Alfred P ⁱ   Gellert, Pia ^a   Nikanorova, Marina ^a,b   Olofsson, Kern ^a   Jepsen, Birgit ^a   Marjanovic, Dragan ^a   Al Zehhawi, Lana I K ^g   Peñalva, Sofia J ^o   Krag Olsen, Bente ^g   Brusgaard, Klaus ^c   Hjalgrim, Helle ^a,b   Rubboli, Guido ^a   Pal, Deb K ^p   Dahl, Hans A ^c   more..

^a DANISH EPILEPSY CENTRE   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^c Amplexa Genetics A/S   (Denmark)

^d GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^e ROSKILDE HOSPITAL   (Denmark)

^f HVIDOVRE HOSPITAL   (Denmark)

^g AARHUS UNIVERSITY HOSPITAL   (Denmark)

^h HOLBÆK HOSPITAL   (Denmark)

ⁱ Rigshospitalet   (Denmark)

^j UNIVERSITY OF COPENHAGEN   (Denmark)

^k TALLINN CHILDREN S HOSPITAL   (Estonia)

^l TARTU UNIVERSITY HOSPITAL   (Estonia)

^m UNIVERSITY OF TARTU   (Estonia)

ⁿ NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^o CEMIC   (Argentina)

^p KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Epileptic encephalopathies; Familial epilepsies; Gene panel testing; Seizures

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; CARBAMAZEPINE; LAMOTRIGINE; LEVETIRACETAM; OXCARBAZEPINE; POTASSIUM CHANNEL KV1.2; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.6; VALPROIC ACID;

ABSENCE; ADOLESCENT; ADULT; ADULTHOOD; AGED; ALGORITHM; ANTICONVULSANT THERAPY; ARTICLE; ATONIC SEIZURE; AUTOSOMAL DOMINANT DISORDER; BIOINFORMATICS; CHILD; COHORT ANALYSIS; EPILEPSY; FAMILIAL DISEASE; FEBRILE CONVULSION; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIATION; HUMAN; INFANTILE SPASM; MAJOR CLINICAL STUDY; MYOCLONUS EPILEPSY; NEWBORN PERIOD; NOCTURNAL SEIZURE; OHTAHARA SYNDROME; ONSET AGE; PATHOGENICITY; PRIORITY JOURNAL; SEGREGATION ANALYSIS;

EID: 84983748486     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000448369     Document Type: Article

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