PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.

Smith, Lacey; Singhal, Nilika; El Achkar, Christelle M; Truglio, Gessica; Rosen Sheidley, Beth; Sullivan, Joseph; Poduri, Annapurna

Smith, Lacey; Singhal, Nilika; El Achkar, Christelle M; Truglio, Gessica; Rosen Sheidley, Beth; Sullivan, Joseph; Poduri, Annapurna.

Affiliation

Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Singhal N; Neurogenetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
El Achkar CM; Department of Neurology, Division of Epilepsy, University of California, San Francisco, San Francisco, CA, USA.
Truglio G; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Rosen Sheidley B; Neurogenetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Sullivan J; Department of Neurology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.
Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

Epilepsia ; 59(3): 679-689, 2018 03.

Article in En | MEDLINE | ID: mdl-29377098

Subject(s)

Cadherins/genetics; Epilepsy/genetics; Epilepsy/psychology; Genetic Variation/genetics; Neurodevelopmental Disorders/genetics; Neurodevelopmental Disorders/psychology; Adolescent; Adult; Autism Spectrum Disorder/diagnosis; Autism Spectrum Disorder/genetics; Autism Spectrum Disorder/psychology; Child; Child, Preschool; Cohort Studies; Epilepsy/diagnosis; Female; Humans; Infant; Intellectual Disability/diagnosis; Intellectual Disability/genetics; Intellectual Disability/psychology; Male; Neurodevelopmental Disorders/diagnosis; Neuropsychological Tests; Pedigree; Protocadherins; Registries; Retrospective Studies; Sleep Wake Disorders/diagnosis; Sleep Wake Disorders/genetics; Sleep Wake Disorders/psychology; Young Adult

Key words

PCDH19; autism spectrum disorder; female-limited epilepsy; seizure; sleep disorder

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Cadherins / Epilepsy / Neurodevelopmental Disorders Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Epilepsia Year: 2018 Document type: Article Affiliation country: United States

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google