Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR

Neurogenetics

Volumn 13, Issue 4, 2012, Pages 341-345

  Terracciano, A ^a   Specchio, N ^a   Darra, F ^b   Sferra, A ^a   Dalla Bernardina, B ^b   Vigevano, F ^a   Bertini, E ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

Epilepsy; Mosaicism; PCDH19

Indexed keywords

DIAZEPAM; ETIRACETAM; PHENOBARBITAL; TOPIRAMATE;

ARTICLE; CASE REPORT; CHILD; CLONIC SEIZURE; DNA SEQUENCE; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; FAMILIAL DISEASE; FEBRILE CONVULSION; FEMALE; GENE; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR CLONING; MOSAICISM; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PCDH19 GENE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SOMATIC MUTATION; THETA RHYTHM; X CHROMOSOMAL INHERITANCE; X CHROMOSOME INACTIVATION;

ADULT; CADHERINS; CHILD; EPILEPSY; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HUMANS; INTELLECTUAL DISABILITY; MOSAICISM; MUTATION, MISSENSE; PEDIGREE; PENETRANCE; SEQUENCE ANALYSIS, DNA;

EID: 84868282117     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0342-9     Document Type: Article

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