کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3049602 1579847 2015 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Cognitive development in females with PCDH19 gene-related epilepsy
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب رفتاری
پیش نمایش صفحه اول مقاله
Cognitive development in females with PCDH19 gene-related epilepsy
چکیده انگلیسی


• PCDH19-related epilepsy starts early in life.
• Cognitive development in patients with PCDH19-related epilepsy
• Results showed normal to mental retardation.
• Behavioral problems and autistic features might be present.
• A serial neuropsychological evaluation might improve the outcome.

Mutations in the PCDH19 gene are now recognized to cause epilepsy in females and are claiming increasing interest in the scientific world. Clinical features and seizure semiology have been described as heterogeneous. Intellectual disability might be present, ranging from mild to severe; behavioral and psychiatric problems are a common feature of the disorder, including aggressiveness, depressed mood, and psychotic traits.The purpose of our study was to describe the cognitive development in 11 girls with a de novo mutation in PCDH19 and early-onset epilepsy.Six patients had average mental development or mild intellectual disability regardless of persistence of seizures in clusters. Five patients presented moderate or severe intellectual disability and autistic features. In younger patients, we found that despite an average developmental quotient, they all presented a delay of expressive language acquisition and lower scores at follow-up testing completed at older ages, underlining that subtle dysfunctions might be present.Larger cohort and long-term follow-up might be useful in defining cognitive features and in improving the care of patients with PCDH19.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Epilepsy & Behavior - Volume 42, January 2015, Pages 36–40
نویسندگان
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