PRRT2-related disorders: Further PKD and ICCA cases and review of the literature

Journal of Neurology

Volumn 260, Issue 5, 2013, Pages 1234-1244

  Becker, Felicitas ^a   Schubert, Julian ^a   Striano, Pasquale ^b   Anttonen, Anna Kaisa ^c,d,e   Liukkonen, Elina ^e   Gaily, Eija ^e   Gerloff, Christian ^f   Müller, Stephan ^a   Heußinger, Nicole ^g   Kellinghaus, Christoph ^h   Robbiano, Angela ⁱ   Polvi, Anne ^c,d   Zittel, Simone ^f   Von Oertzen, Tim J ^j   Rostasy, Kevin ^k   Schöls, Ludger ^a,l   Warner, Tom ^m   Münchau, Alexander ^f   Lehesjoki, Anna Elina ^c,d   Zara, Federico ^b   Lerche, Holger ^a   Weber, Yvonne G ^a   more..

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF GENOA   (Italy)

^c FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^d UNIVERSITY OF HELSINKI   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^h Hospitalier de Luxembourg   (Germany)

ⁱ G GASLINI INSTITUTE   (Italy)

^j ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^k INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^l GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Benign infantile seizures; Epilepsy; Genetics; Movement disorder; Paroxysmal dyskinesia; Synaptic vesicle transport

Indexed keywords

CARBAMAZEPINE; PHENYTOIN; MEMBRANE PROTEIN; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

CAUCASIAN; GENE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MUTATION; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; PRIORITY JOURNAL; PROLINE RICH TRANSMEMBRANE PROTEIN 2 GENE; REVIEW; SEIZURE; ADOLESCENT; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; CHILD; CHOREA; FAMILY HEALTH; FEMALE; GENETICS; INFANT; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; YOUNG ADULT; COMPLICATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHOREA; DNA MUTATIONAL ANALYSIS; EPILEPSY, BENIGN NEONATAL; FAMILY HEALTH; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; YOUNG ADULT;

EID: 84884335611     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6777-y     Document Type: Review

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