Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study
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Title
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study
Authors
Keywords
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Journal
EPILEPSIA
Volume 59, Issue 12, Pages 2260-2271
Publisher
Wiley
Online
2018-11-19
DOI
10.1111/epi.14600
References
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Related references
Note: Only part of the references are listed.- PCDH19 -related epilepsy is associated with a broad neurodevelopmental spectrum
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- Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations
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- Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
- (2016) Jan Lotte et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice
- (2016) Daniel T. Pederick et al. Scientific Reports
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- (2015) Simona Cappelletti et al. EPILEPSY & BEHAVIOR
- Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency
- (2015) Chuan Tan et al. HUMAN MOLECULAR GENETICS
- Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact
- (2014) Emanuela Leonardi et al. ANNALS OF HUMAN GENETICS
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- (2013) Gemma L Carvill et al. NATURE GENETICS
- Focal seizures with affective symptoms are a major feature ofPCDH19gene-related epilepsy
- (2012) Carla Marini et al. EPILEPSIA
- Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: Two novel mutations and review of the literature
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- (2012) Christel Depienne et al. HUMAN MUTATION
- Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR
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- Electroencephalographic characteristics of Dravet syndrome
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- Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome
- (2010) Seema M. Jamal et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Protocadherin 19 mutations in girls with infantile-onset epilepsy
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- (2010) S.Y. Kim et al. NEUROSCIENCE
- Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
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