A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
出版年份 2020 全文链接
标题
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
作者
关键词
-
出版物
Translational Psychiatry
Volume 10, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-05-05
DOI
10.1038/s41398-020-0803-0
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy
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- PCDH19 -related epilepsy is associated with a broad neurodevelopmental spectrum
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- Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
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- A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity
- (2018) Kristy L Kolc et al. MOLECULAR PSYCHIATRY
- Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy
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- Cognitive development in females with PCDH19 gene-related epilepsy
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- From Mindless to Mindful Practice — Cognitive Bias and Clinical Decision Making
- (2013) Pat Croskerry NEW ENGLAND JOURNAL OF MEDICINE
- Focal seizures with affective symptoms are a major feature ofPCDH19gene-related epilepsy
- (2012) Carla Marini et al. EPILEPSIA
- Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
- (2011) Nicola Specchio et al. EPILEPSIA
- Early-life seizures produce lasting alterations in the structure and function of the prefrontal cortex
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- Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
- (2010) Christel Depienne et al. HUMAN MUTATION
- Protocadherin 19 mutations in girls with infantile-onset epilepsy
- (2010) C. Marini et al. NEUROLOGY
- Strengths and Difficulties Questionnaire as a Dimensional Measure of Child Mental Health
- (2009) Anna Goodman et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
- (2009) Christel Depienne et al. PLoS Genetics
- Epilepsy and mental retardation limited to females: an under-recognized disorder
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- X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
- (2008) Leanne M Dibbens et al. NATURE GENETICS
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