PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

American Journal of Medical Genetics, Part A

Volumn 170, Issue 6, 2016, Pages 1585-1589

  Thiffault, Isabelle ^a,b   Farrow, Emily ^a,b   Smith, Laurie ^a,c   Lowry, Jennifer ^a,b   Zellmer, Lee ^a   Black, Benjamin ^a   Abdelmoity, Ahmed ^a   Miller, Neil ^a   Soden, Sarah ^a,b   Saunders, Carol ^a,b  

^a CHILDREN S MERCY HOSPITAL   (United States)

^b UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Behavioral disorders; Developmental disorders; Dysmorphic features; Epileptic encephalopathy; PCDH19; Somatic mosaicism

Indexed keywords

ANTICONVULSIVE AGENT; CLONIDINE; MELATONIN; ZONISAMIDE; CADHERIN; PCDH19 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; COMORBIDITY; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE CONTROL; EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; EPILEPTOGENESIS; EXOME SEQUENCING; GENE; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENETIC VARIATION; HETEROZYGOSITY; HUMAN; INTELLIGENCE QUOTIENT; KARYOTYPE; MALE; MEDICAL HISTORY; MOSAICISM; MULTIFOCAL EPILEPSY; MYOPIA; OUTCOME ASSESSMENT; PCDH19 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SLEEP DISORDER; SOMATIC MOSAICISM; TRUNCATING VARIANT; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EXOME; GENETIC ASSOCIATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; NEUROPSYCHOLOGICAL TEST;

CADHERINS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXOME; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOSAICISM; MUTATION; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE;

EID: 84961601403     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37617     Document Type: Article

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