title: The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
abstract: Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SCN1A mutation and 29 girls with fever-sensitive and cluster seizures. We identified 11 novel and 7 reported mutations in 21 of 104 probands (20.2%), including 6 (6/75, 8%) DS girls and 15 (15/29, 51.7%) girls with fever-sensitive epilepsy. The mutations were inherited in 9 probands, de novo in 11, and undetermined in the remaining patient. Shared clinical features included early onset seizures (5-18 months), seizures sensitive to fever, focal seizures or generalized tonic-clonic seizures in clusters and brief seizures. Mental retardation was present in 17 probands. Three patients had autistic features. Two of the nine probands with inherited mutations had no family history of epilepsy, one inherited the mutation from her transmitting father and the other inherited from her asymptomatic mother. Our results confirmed that the clinical spectrum of PCDH19 mutations includes female DS patients, epilepsy and mental retardation limited to females, epilepsy with normal development and asymptomatic female carriers.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: A
authors.initials: A
authors.lastname: Liu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Xu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Wu
authors.affiliation: Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing, China.
authors.forename: L
authors.initials: L
authors.lastname: Wei
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D015820:Cadherins / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D004827:Epilepsy / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D000091363:Protocadherins; D017386:Sequence Homology, Amino Acid
chemical_list: D015820:Cadherins; C438605:PCDH19 protein, human; D000091363:Protocadherins
keywords: Dravet syndrome; PCDH19; clinical manifestation; epilepsy; females; fever