Autosomal recessive cortical myoclonic tremor and epilepsy: Association with a mutation in the potassium channel associated gene CNTN2

Brain

Volumn 136, Issue 4, 2013, Pages 1155-1160

  Stogmann, Elisabeth ^a   Reinthaler, Eva ^a   Eltawil, Salwa ^b   El Etribi, Mohammed A ^b   Hemeda, Mahmoud ^b   El Nahhas, Nevine ^b   Gaber, Ahmed M ^b   Fouad, Amal ^b   Edris, Sherif ^b   Benet Pages, Anna ^c   Eck, Sebastian H ^c   Pataraia, Ekaterina ^a   Mei, Davide ^d   Brice, Alexis ^e,f,g,h   Lesage, Suzanne ^e,f,g   Guerrini, Renzo ^d   Zimprich, Friedrich ^a   Strom, Tim M ^c   Zimprich, Alexander ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b AIN SHAMS UNIVERSITY   (Egypt)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d UNIVERSITY OF FLORENCE   (Italy)

^e INSERM   (France)

^f SORBONNE UNIVERSITÉ   (France)

^g INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

CNTN2; cortical myoclonic tremor and epilepsy; whole exome sequencing

Indexed keywords

AXONIN 1; CNTN2 PROTEIN; CONTACTIN ASSOCIATED PROTEIN LIKE 2; POTASSIUM CHANNEL; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE CORTICAL MYOCLONIC TREMOR; AUTOSOMAL RECESSIVE DISORDER; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; EXOME; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOCLONUS EPILEPSY; PRIORITY JOURNAL;

EID: 84876064861     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt068     Document Type: Article

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