Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

Neurology

Volumn 76, Issue 17, 2011, Pages 1514-1519

  Dibbens, L M ^a,b   Kneen, R ^c   Bayly, M A ^a   Heron, S E ^a,b   Arsov, T ^d   Damiano, J A ^d   Desai, T ^d   Gibbs, J ^e   McKenzie, F ^f   Mulley, J C ^a,b   Ronan, A ^f   Scheffer, I E ^d  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e Royal Childrens Hospital ^*  (United Kingdom)

^f UNIVERSITY OF NEWCASTLE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; GENOMIC DNA; GLYCOPROTEIN; PROTOCADHERIN 19; UNCLASSIFIED DRUG;

ADULT; ANXIETY; APNEA; ARTICLE; AUTISM; BLOOD SAMPLING; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DEPRESSION; DNA EXTRACTION; ELECTROENCEPHALOGRAM; ENCEPHALOMALACIA; EPILEPSY; EPILEPTIC DISCHARGE; EXTRACHROMOSOMAL INHERITANCE; FEBRILE CONVULSION; FEMALE; FEVER; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPPOSITIONAL DEFIANT DISORDER; PHENOTYPE; PRIORITY JOURNAL; RECURRENCE RISK; SIBLING; TONIC CLONIC SEIZURE; TONIC SEIZURE;

ADOLESCENT; CADHERINS; DNA MUTATIONAL ANALYSIS; EPILEPSY; FAMILY HEALTH; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MOSAICISM; PARENTS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECURRENCE; YOUNG ADULT;

EID: 79955519400     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318217e7b6     Document Type: Article

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