4.7 Article

Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy

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。
Article Biochemical Research Methods

ATAV: a comprehensive platform for population-scale genomic analyses

Zhong Ren et al.

Summary: ATAV is an analysis platform for large-scale whole-exome and whole-genome sequencing projects. It efficiently queries a centralized database to support diagnostic analyses for trios and singletons, as well as rare-variant collapsing analyses for finding disease associations in complex diseases. The platform has enabled the discovery of disease-genes by rare-variant collapsing on datasets containing more than 20,000 samples.

BMC BIOINFORMATICS (2021)

Review Clinical Neurology

30 years of second -generation antiseizure medications: impact and future perspectives

Emilio Perucca et al.

LANCET NEUROLOGY (2020)

Article Clinical Neurology

Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load

Piero Perucca et al.

ANNALS OF NEUROLOGY (2020)

Review Genetics & Heredity

The Genetics of Epilepsy

Piero Perucca et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020 (2020)

Article Clinical Neurology

Focal epilepsy inSCN1A-mutation carrying patients: is there a role for epilepsy surgery?

Aikaterini Vezyroglou et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2020)

Article Medicine, General & Internal

Causal Genetic Variants in Stillbirth

Kate E. Stanley et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Article Genetics & Heredity

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen-Chen Anne Feng et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Review Clinical Neurology

Getting the best outcomes from epilepsy surgery

Vejay N. Vakharia et al.

ANNALS OF NEUROLOGY (2018)

Review Clinical Neurology

Genetics of Focal Epilepsies: What Do We Know and Where Are We Heading?

Piero Perucca

EPILEPSY CURRENTS (2018)

Article Genetics & Heredity

Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis

John K. L. Wong et al.

NEUROLOGY-GENETICS (2018)

Review Clinical Neurology

Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review

Remi Stevelink et al.

EPILEPTIC DISORDERS (2018)

Article Clinical Neurology

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Andrew S. Allen et al.

LANCET NEUROLOGY (2017)

Article Critical Care Medicine

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

Slave Petrovski et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2017)

Article Clinical Neurology

Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy

Karen L. Skjei et al.

JOURNAL OF NEUROSURGERY-PEDIATRICS (2015)

Article Clinical Neurology

Co-occurring malformations of cortical development and SCN1A gene mutations

Carmen Barba et al.

EPILEPSIA (2014)

Review Clinical Neurology

Epilepsy surgery in children and adults

Philippe Ryvlin et al.

LANCET NEUROLOGY (2014)

Article Genetics & Heredity

A framework for the interpretation of de novo mutation in human disease

Kaitlin E. Samocha et al.

NATURE GENETICS (2014)

Article Genetics & Heredity

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M. Dibbens et al.

NATURE GENETICS (2013)

Article Genetics & Heredity

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Slave Petrovski et al.

PLOS GENETICS (2013)

Article Medicine, General & Internal

Early Surgical Therapy for Drug-Resistant Temporal Lobe Epilepsy A Randomized Trial

Jerome Engel et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2012)

Article Medicine, General & Internal

HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans

Mark McCormack et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

Review Medicine, General & Internal

CURRENT CONCEPTS Drug-Resistant Epilepsy

Patrick Kwan et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

Article Clinical Neurology

Mesial Temporal Lobe Epilepsy: How Do We Improve Surgical Outcome?

Maria Thom et al.

ANNALS OF NEUROLOGY (2010)

Article Clinical Neurology

Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutations

Ingrid E. Scheffer et al.

Article Clinical Neurology

Outcome of surgical treatment in familial mesial temporal lobe epilepsy

E Kobayashi et al.

EPILEPSIA (2003)

Article Medicine, General & Internal

A randomized, controlled trial of surgery for temporal-lobe epilepsy

S Wiebe et al.

NEW ENGLAND JOURNAL OF MEDICINE (2001)