Abstract
Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients.
Lingua originale | Inglese |
---|---|
pagine (da-a) | 2111-2119 |
Numero di pagine | 9 |
Rivista | Epilepsia |
Volume | 53 |
Numero di pubblicazione | 12 |
DOI | |
Stato di pubblicazione | Pubblicato - 2012 |
All Science Journal Classification (ASJC) codes
- Neurologia
- Neurologia (clinica)
Keywords
- Adolescent
- Adult
- Affective Symptoms
- Cadherins
- Child
- Cognition Disorders
- Computational Biology
- DNA Mutational Analysis
- Electroencephalography
- Female
- Follow-Up Studies
- Genetic Predisposition to Disease
- Humans
- Mutation
- Neuropsychological Tests
- Preschool
- Seizures
- Video Recording
- Young Adult