Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Annals of Neurology

Volumn 79, Issue 3, 2016, Pages 428-436

  Gardella, Elena ^a,b   Becker, Felicitas ^c   Møller, Rikke S ^a,b   Schubert, Julian ^c   Lemke, Johannes R ^d   Larsen, Line H G ^e   Eiberg, Hans ^f   Nothnagel, Michael ^g   Thiele, Holger ^g   Altmüller, Janine ^g   Syrbe, Steffen ^h   Merkenschlager, Andreas ^h   Bast, Thomas ⁱ   Steinhoff, Bernhard ⁱ   Nürnberg, Peter ^g   Mang, Yuan ^f   Bakke Møller, Louise ^a   Gellert, Pia ^a   Heron, Sarah E ^j   Dibbens, Leanne M ^j   Weckhuysen, Sarah ^k,l   Dahl, Hans Atli ^e   Biskup, Saskia ^c   Tommerup, Niels ^f   Hjalgrim, Helle ^a,b   Lerche, Holger ^c   Beniczky, Sándor ^a,m   Weber, Yvonne G ^c   more..

^a DANISH EPILEPSY CENTRE   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^e Amplexa Genetics A/S   (Denmark)

^f UNIVERSITY OF COPENHAGEN   (Denmark)

^g UNIVERSITY OF COLOGNE   (Germany)

^h UNIVERSITY OF LEIPZIG   (Germany)

ⁱ Epilepsy Center Kork   (Germany)

^j UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^k UNIVERSITY OF ANTWERP   (Belgium)

^l UNIVERSITY OF ANTWERP   (Belgium)

^m AARHUS UNIVERSITY   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; ANTINEOPLASTIC AGENT; CARBAMAZEPINE; GPRC5B PROTEIN; HERP2 PROTEIN; HEY1 PROTEIN; PHENOBARBITAL; PROTEIN; SODIUM CHANNEL NAV1.6; TRIM47 PROTEIN; UNCLASSIFIED DRUG; SCN8A PROTEIN, HUMAN;

ACUTE MYELOBLASTIC LEUKEMIA; ARTICLE; ATYPICAL TERATOID RHABDOID TUMOR; BENIGN CHILDHOOD EPILEPSY; BENIGN FAMILIAL INFANTILE SEIZURE; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CHOREOATHETOSIS; CLINICAL ARTICLE; COGNITION; COGNITIVE FUNCTION TEST; CONFUSION; CONTROLLED STUDY; CONVULSION; COSEGREGATING MUTATION; ELECTROENCEPHALOGRAPHY; EMOTIONAL STRESS; EXERCISE; EXOME; EXOME SEQUENCING; FOUNDER EFFECT; GENE MUTATION; GENERALIZED TONIC CLONIC SEIZURE; GENETIC DISORDER; HANNOVER WECHSLER INTELLIGENCE SCALE; HETEROZYGOSITY; HUMAN; INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS; INTELLIGENCE QUOTIENT; LEARNING DISORDER; LINKAGE ANALYSIS; MIGRAINE WITH AURA; MISSENSE MUTATION; MOTOR PERFORMANCE; NEUROIMAGING; PAROXYSMAL DYSTONIA; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; PRIORITY JOURNAL; PUBERTY; SEQUENCE ANALYSIS; SHIVERING; STRETCHING; TARGETED GENE PANEL SEQUENCING; TONIC CLONIC SEIZURE; VIDEORECORDING; CASE REPORT; CHILD; CHOREA; EPILEPSY, BENIGN NEONATAL; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD; CHILD, PRESCHOOL; CHOREA; EPILEPSY, BENIGN NEONATAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; NAV1.6 VOLTAGE-GATED SODIUM CHANNEL; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84960424771     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24580     Document Type: Article

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