Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Brain

Volumn 140, Issue 5, 2017, Pages 1316-1336

  Wolff, Markus ^a   Johannesen, Katrine M ^b,c   Hedrich, Ulrike B S ^d   Masnada, Silvia ^e   Rubboli, Guido ^b,f   Gardella, Elena ^b,c   Lesca, Gaetan ^g,h,i   Ville, Dorothée ^g   Milh, Mathieu ^j,k   Villard, Laurent ^k   Afenjar, Alexandra ^l   Chantot Bastaraud, Sandra ^l   Mignot, Cyril ^l   Lardennois, Caroline ^m   Nava, Caroline ^n,o   Schwarz, Niklas ^d   Gérard, Marion ^p   Perrin, Laurence ^q   Doummar, Diane ^r   Auvin, Stéphane ^q,s   Miranda, Maria J ^t   Hempel, Maja ^u   Brilstra, Eva ^v   Knoers, Nine ^v   Verbeek, Nienke ^v   Van Kempen, Marjan ^v   Braun, Kees P ^v   Mancini, Grazia ^w   Biskup, Saskia ^x   Hörtnagel, Konstanze ^x   Döcker, Miriam ^x   Bast, Thomas ^y   Loddenkemper, Tobias ^z   Wong Kisiel, Lily ^aa   Baumeister, Friedrich M ^ab   Fazeli, Walid ^ac   Striano, Pasquale ^ad   Dilena, Robertino ^ae   Fontana, Elena ^af   Zara, Federico ^ag   Kurlemann, Gerhard ^ah   Klepper, Joerg ^ai   Thoene, Jess G ^aj   Arndt, Daniel H ^ak   Deconinck, Nicolas ^al   Schmitt Mechelke, Thomas ^am   Maier, Oliver ^an   Muhle, Hiltrud ^ao   Wical, Beverly ^ap   Finetti, Claudio ^aq   Brückner, Reinhard ^ar   Pietz, Joachim ^as   Golla, Günther ^at   Jillella, Dinesh ^z   Linnet, Karen M ^au   Charles, Perrine ^o   Moog, Ute ^as   Õiglane Shlik, Eve ^av   Mantovani, John F ^aw   Park, Kristen ^ax   Deprez, Marie ^ay   Lederer, Damien ^ay   Mary, Sandrine ^ay   Scalais, Emmanuel ^az   Selim, Laila ^ba   Van Coster, Rudy ^bb   Lagae, Lieven ^bc   Nikanorova, Marina ^b   Hjalgrim, Helle ^b,c   Korenke, G Christoph ^bd   Trivisano, Marina ^be   Specchio, Nicola ^be   Ceulemans, Berten ^bf   Dorn, Thomas ^bg   Helbig, Katherine L ^bh   Hardies, Katia ^bi,bj   Stamberger, Hannah ^bf,bi,bj   De Jonghe, Peter ^bf,bi,bj   Weckhuysen, Sarah ^bf,bi,bj   Lemke, Johannes R ^bk   Krägeloh Mann, Ingeborg ^a   Helbig, Ingo ^ao,bl   Kluger, Gerhard ^bm,bn   Lerche, Holger ^d   Møller, Rikke S ^b,c   more..

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b DANISH EPILEPSY CENTRE   (Denmark)

^c UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e UNIVERSITY OF PAVIA   (Italy)

^f UNIVERSITY OF COPENHAGEN   (Denmark)

^g HOSPICES CIVILS DE LYON   (France)

^h UNIVERSITÉ LYON 1   (France)

ⁱ LYON NEUROSCIENCE RESEARCH CENTER   (France)

^j ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

^k AIX MARSEILLE UNIVERSITY   (France)

^l ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^m Service de Pediatrie Neonatale et Réanimation Neuropediatrie   (France)

ⁿ SORBONNE UNIVERSITÉ   (France)

^o PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^p CAEN UNIVERSITY HOSPITAL   (France)

^q HÔPITAL ROBERT DEBRÉ   (France)

^r ARMAND TROUSSEAU HOSPITAL   (France)

^s UNIVERSITÉ PARIS DESCARTES   (France)

^t GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^u UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^v UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^w ERASMUS MEDICAL CENTER   (Netherlands)

^x CEGAT GMBH   (Germany)

^y Epilepsy Center Kork   (Germany)

^z BOSTON CHILDREN S HOSPITAL   (United States)

^aa MAYO CLINIC   (United States)

^ab Children's Hospital   (Germany)

^ac UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^ad UNIVERSITY OF GENOA   (Italy)

^ae FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^af Department of Pathology and Diagnostics Section of Infectious Diseases Azienda Ospedaliera Universitaria Integrata Policlinico GB Rossi   (Italy)

^ag G GASLINI INSTITUTE   (Italy)

^ah UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^ai KLINIKUM ASCHAFFENBURG   (Germany)

^aj UNIVERSITY OF MICHIGAN   (United States)

^ak OAKLAND UNIVERSITY WILLIAM BEAUMONT SCHOOL OF MEDICINE   (United States)

^al HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^am CHILDREN S HOSPITAL   (Switzerland)

^an Ostschweizer Children's Hospital   (Switzerland)

^ao UNIVERSITY OF KIEL   (Germany)

^ap GILLETTE CHILDREN'S SPECIALTY HEALTHCARE   (United States)

^aq ELISABETH KRANKENHAUS ESSEN   (Germany)

^ar Elisabeth Krankenhaus ^*  (Germany)

^as UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^at KLINIKUM LIPPE DETMOLD   (Germany)

^au AARHUS UNIVERSITY HOSPITAL   (Denmark)

^av UNIVERSITY OF TARTU   (Estonia)

^aw MERCY HOSPITAL   (United States)

^ax UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^ay Institute of Pathology and Genetics Gosselies   (Belgium)

^az CENTRE HOSPITALIER DE LUXEMBOURG   (Luxembourg)

^ba CAIRO UNIVERSITY   (Egypt)

^bb GHENT UNIVERSITY HOSPITAL   (Belgium)

^bc UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^bd UNIVERSITY OF OLDENBURG   (Germany)

^be BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^bf ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^bg SWISS EPILEPSY CENTER   (Switzerland)

^bh AMBRY GENETICS   (United States)

^bi DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^bj UNIVERSITY OF ANTWERP   (Belgium)

^bk UNIVERSITY OF LEIPZIG   (Germany)

^bl CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^bm Schoen Klinik   (Germany)

^bn PARACELSUS MEDICAL UNIVERSITY   (Austria)

more..

Author keywords

epilepsy; epilepsy genetics; SCN2A; sodium channel blockers; treatment response

Indexed keywords

ACETAZOLAMIDE; ANTICONVULSIVE AGENT; CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; CORTICOSTEROID; CORTICOTROPIN; ETHOSUXIMIDE; FELBAMATE; GABAPENTIN; LACOSAMIDE; LAMOTRIGINE; LEVETIRACETAM; LIDOCAINE; MESUXIMIDE; MIDAZOLAM; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; SODIUM CHANNEL BLOCKING AGENT; SODIUM CHANNEL NAV1.2; STIRIPENTOL; SULTIAME; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; ZONISAMIDE; SCN2A PROTEIN, HUMAN;

ANTICONVULSANT THERAPY; ARTICLE; ATONIC SEIZURE; BENIGN CHILDHOOD EPILEPSY; BRAIN DISEASE; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC STATE; FEMALE; FOCAL EPILEPSY; GENETICS; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; LENNOX GASTAUT SYNDROME; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYOCLONUS EPILEPSY; OHTAHARA SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; TREATMENT OUTCOME; WHOLE CELL PATCH CLAMP; ADOLESCENT; ADULT; CHILD; DENMARK; INFANT; MENTAL DISEASE; MUTATION; ONSET AGE; PATHOPHYSIOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DENMARK; EPILEPSY; FEMALE; HUMANS; INFANT; MALE; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; NEURODEVELOPMENTAL DISORDERS; PHENOTYPE; SODIUM CHANNEL BLOCKERS; YOUNG ADULT;

EID: 85019584830     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awx054     Document Type: Article

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