PRRT2 Mutations are the major cause of benign familial infantile seizures

Human Mutation

Volumn 33, Issue 10, 2012, Pages 1439-1443

  Schubert, Julian ^a   Paravidino, Roberta ^b   Becker, Felicitas ^a   Berger, Andrea ^c,d   Bebek, Nerses ^e   Bianchi, Amedeo ^f   Brockmann, Knut ^g   Capovilla, Giuseppe ^h   Dalla Bernardina, Bernardo ⁱ   Fukuyama, Yukio ^j   Hoffmann, Georg F ^k   Jurkat Rott, Karin ^l   Anttonen, Anna Kaisa ^m   Kurlemann, Gerhard ⁿ   Lehesjoki, Anna Elina ^m   Lehmann Horn, Frank ^l   Mastrangelo, Massimo ^o   Mause, Ulrike ^p   Müller, Stephan ^a   Neubauer, Bernd ^q   Püst, Burkhard ^r   Rating, Dietz ^k   Robbiano, Angela ^b   Ruf, Susanne ^s   Schroeder, Christopher ^t   Seidel, Andreas ^u   Specchio, Nicola ^v   Stephani, Ulrich ^w   Striano, Pasquale ^b   Teichler, Jens ^x   Turkdogan, Dilsad ^y   Vigevano, Federico ^v   Viri, Maurizio ^z   Bauer, Peter ^t   Zara, Federico ^b   Lerche, Holger ^a   Weber, Yvonne G ^a   more..

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b G GASLINI INSTITUTE   (Italy)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e ISTANBUL UNIVERSITY   (Turkey)

^f Division of Neurology   (Italy)

^g UNIVERSITY OF GÖTTINGEN   (Germany)

^h CARLO POMA HOSPITAL   (Italy)

ⁱ UNIVERSITY OF VERONA   (Italy)

^j Kyushu University   (Japan)

^k UNIVERSITY OF HEIDELBERG   (Germany)

^l UNIVERSITY OF ULM   (Germany)

^m UNIVERSITY OF HELSINKI   (Finland)

ⁿ UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^o V BUZZI CHILDREN S HOSPITAL   (Italy)

^p UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^q JUSTUS LIEBIG UNIVERSITY   (Germany)

^r Pediatric Hospital Wilhelmstift   (Germany)

^s UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^t UNIVERSITY OF TÜBINGEN   (Germany)

^u Sozialpaediatrisches Zentrum Celle   (Germany)

^v BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^w UNIVERSITY OF KIEL   (Germany)

^x UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^y MARMARA UNIVERSITY   (Turkey)

^z FATEBENEFRATELLI HOSPITAL   (Italy)

more..

Author keywords

Choreoathetosis; Epilepsy; PRRT2; Synaptic vesicle

Indexed keywords

CYTOSINE;

ADOLESCENT; ADULT; AGED; ARTICLE; BENIGN FAMILIAL INFANTILE SEIZURE; CHILD; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GERMANY; HUMAN; INFANT; ITALY; JAPANESE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRRT2 GENE; SCHOOL CHILD; SEIZURE; TURKEY (REPUBLIC);

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; SEIZURES, FEBRILE; SPASMS, INFANTILE;

EID: 84866287779     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22126     Document Type: Article

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