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Genotype-Phenotype Analysis of Children with Epilepsy Referred for WES at a Tertiary Care University Hospital

https://doi.org/10.2139/ssrn.4156340
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The epidemiology of the epilepsies in children
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A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy
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Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A
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Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10
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Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations
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Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review
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Incidence and classification of new-onset epilepsy and epilepsy syndromes in children in Olmsted County, Minnesota from 1980 to 2004: A population-based study
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Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel
inferredcites →https://doi.org/10.1016/j.pediatrneurol.2019.10.009openalex-extracted
PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review
inferredcites →https://doi.org/10.1016/j.seizure.2013.04.002openalex-extracted
Impact of a family history of epilepsy on the diagnosis of epilepsy in southern Saudi Arabia
inferredcites →https://doi.org/10.1016/j.seizure.2016.11.030openalex-extracted
Epilepsy-associated genes
inferredcites →https://doi.org/10.1016/j.yebeh.2020.107003openalex-extracted
The role of targeted gene panel in pediatric drug-resistant epilepsy
inferredcites →https://doi.org/10.1016/s0140-6736(02)08779-2openalex-extracted
Death in children with epilepsy: a population-based study
inferredcites →https://doi.org/10.1017/cjn.2015.394openalex-extracted
Reflex Seizures Triggered by Diaper Change in Dravet Syndrome
inferredcites →https://doi.org/10.1017/cjn.2018.341openalex-extracted
Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada
inferredcites →https://doi.org/10.1038/mp.2016.113openalex-extracted
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
inferredcites →https://doi.org/10.1038/nrneurol.2010.92openalex-extracted
Genetic evaluation and counseling for epilepsy
inferredcites →https://doi.org/10.1053/seiz.2001.0602openalex-extracted
The prevalence of epilepsy and other seizure disorders in an Arab population: a community-based study
inferredcites →https://doi.org/10.1055/s-0039-1691826openalex-extracted
A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet
inferredcites →https://doi.org/10.1111/cge.12297openalex-extracted
Aminoacylase I deficiency due to ACY1 mRNA exon skipping
inferredcites →https://doi.org/10.1111/epi.12550openalex-extracted
ILAE Official Report: A practical clinical definition of epilepsy
inferredcites →https://doi.org/10.1111/epi.13084openalex-extracted
The direct cost of epilepsy in the United States: A systematic review of estimates
inferredcites →https://doi.org/10.1111/epi.13122openalex-extracted
Obtaining genetic testing in pediatric epilepsy
inferredcites →https://doi.org/10.1111/epi.13219openalex-extracted
Population‐based comparative analysis of risk of death in children and adolescents with epilepsy and migraine
inferredcites →https://doi.org/10.1111/epi.13709openalex-extracted
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
inferredcites →https://doi.org/10.1177/1179573519849938openalex-extracted
Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review
inferredcites →https://doi.org/10.1212/wnl.0b013e3182a43e57openalex-extracted
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
inferredcites →https://doi.org/10.1515/tnsci-2018-0023openalex-extracted
Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study
inferredcites →https://doi.org/10.1684/epd.2015.0736openalex-extracted
Incidence, prevalence and aetiology of seizures and epilepsy in children
inferredcites →https://doi.org/10.1684/epd.2018.0957openalex-extracted
The 2017 ILAE classification of seizure types and the epilepsies: what do people with epilepsy and their caregivers need to know?
inferredcites →https://doi.org/10.2165/00019053-200826060-00002openalex-extracted
Cost of Epilepsy
inferredcites →https://doi.org/10.2174/1871527314666150429111737openalex-extracted
Array-Comparative Genomic Hybridization Analysis of a Cohort of Saudi Patients with Epilepsy
inferredcites →https://doi.org/10.24911/sjp.2018.1.8openalex-extracted
Clinical characteristics and aetiology of early childhood epilepsy: a single centre experience in Saudi Arabia
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