Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Human Mutation

Volumn 32, Issue 1, 2011, Pages

  Depienne, Christel ^a,b   Trouillard, Oriane ^a   Bouteiller, Delphine ^a   Gourfinkel An, Isabelle ^a,c   Poirier, Karine ^d   Rivier, François ^e   Berquin, Patrick ^f   Nabbout, Rima ^c,g   Chaigne, Denys ^h   Steschenko, Dominique ⁱ   Gautier, Agnès ^j   Hoffman Zacharska, Dorota ^k   Lannuzel, Annie ^a,l   Lackmy Port Lis, Marilyn ^l   Maurey, Hélène ^m   Dusser, Anne ^m   Bru, Marie ^j   Gilbert Dussardier, Brigitte ⁿ   Roubertie, Agathe ^e   Kaminska, Anna ^g   Whalen, Sandra ^a   Mignot, Cyril ^a,o   Baulac, Stéphanie ^a   Lesca, Gaetan ^p   Arzimanoglou, Alexis ^c,p   LeGuern, Eric ^a,b   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c INSERM   (France)

^d INSTITUT COCHIN   (France)

^e GUI DE CHAULIAC HOSPITAL   (France)

^f AMIENS UNIVERSITY HOSPITAL   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h Service de Neuropédiatrie Clinique Sainte Odile   (France)

ⁱ HÔPITAL D ENFANTS   (France)

^j Hopital Mere Enfant CHU de Nantes   (France)

^k INSTITUTE OF MOTHER AND CHILD   (Poland)

^l University of Antilles and Guyane   (Guadeloupe)

^m BICÊTRE HOSPITAL   (France)

ⁿ POITIERS UNIVERSITY HOSPITAL   (France)

^o ARMAND TROUSSEAU HOSPITAL   (France)

^p University Hospitals of Lyon HCL   (France)

more..

Author keywords

Cognitive function; Epilepsy; Febrile seizures; Microdeletion; PCDH19

Indexed keywords

CADHERIN; PROTEIN PCDH 19; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; COGNITION; DNA POLYMORPHISM; EPILEPSY; FAMILY HISTORY; FEBRILE CONVULSION; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; CADHERINS; CHILD; CHILD, PRESCHOOL; EPILEPSY; EXONS; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 78650456921     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21373     Document Type: Article

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