Genetic testing in children enrolled in epilepsy surgery program. A real-life study

Ultra‐low level somatic mutations and structural variations in focal cortical dysplasia type II

(2023) Ja Hye Kim et al.   ANNALS OF NEUROLOGY

Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and post‐surgical outcomes

(2023) Maria H. Eriksson et al.   EPILEPSIA

Sirolimus for epileptic seizures associated with focal cortical dysplasia type II

(2022) Mitsuhiro Kato et al.   Annals of Clinical and Translational Neurology

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations

(2022) Dulcie Lai et al.   BRAIN

Pilot study evaluating everolimus molecular mechanisms in tuberous sclerosis complex and focal cortical dysplasia

(2022) Dominique F. Leitner et al.   PLoS One

The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

(2022) Imad Najm et al.   EPILEPSIA

Detection of brain somatic variation in epilepsy‐associated developmental lesions

(2022) Tracy A. Bedrosian et al.   EPILEPSIA

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

(2022) Abbe Lai et al.   GENETICS IN MEDICINE

Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes

(2022) Zimeng Ye et al.   NEUROLOGY

Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in theSLC35A2Gene

(2022) Carmen Barba et al.   NEUROLOGY

Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series

(2022) Giovanni Battista Dell'Isola et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Genetic Testing for Malformations of Cortical Development

(2022) Barbora Straka et al.   Neurology-Genetics

GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

(2021) Barbora Benova et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

(2021) Thomas Bonduelle et al.   Acta Neuropathologica Communications

Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients

(2021) Seyeon Kim et al.   ANNALS OF NEUROLOGY

May intraoperative detection of stereotactically inserted intracerebral electrodes increase precision of resective epilepsy surgery?

(2021) Anezka Belohlavkova et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

(2021) Filomena Pirozzi et al.   BRAIN

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

(2021) Jeffrey D Calhoun et al.   BRAIN

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

(2020) Marina Trivisano et al.   EPILEPSY & BEHAVIOR

Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

(2020) Herm J Lamberink et al.   LANCET NEUROLOGY

International consensus recommendations on the diagnostic work-up for malformations of cortical development

(2020) Renske Oegema et al.   Nature Reviews Neurology

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

(2019) Wei Shern Lee et al.   Annals of Clinical and Translational Neurology

Precise detection of low-level somatic mutation in resected epilepsy brain tissue

(2019) Nam Suk Sim et al.   ACTA NEUROPATHOLOGICA

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

(2019) Sara Baldassari et al.   ACTA NEUROPATHOLOGICA

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

(2018) Théo Ribierre et al.   JOURNAL OF CLINICAL INVESTIGATION

European trends in epilepsy surgery

(2018) Maxime O. Baud et al.   NEUROLOGY

The landscape of epilepsy-related GATOR1 variants

(2018) Sara Baldassari et al.   GENETICS IN MEDICINE

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

(2017) Marilyn M. Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

SZT2 dictates GATOR control of mTORC1 signalling

(2017) Min Peng et al.   NATURE

Surgery for Drug-Resistant Epilepsy in Children

(2017) Rekha Dwivedi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

(2017) Ingmar Blumcke et al.   NEW ENGLAND JOURNAL OF MEDICINE

STXBP1encephalopathy

(2016) Hannah Stamberger et al.   NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Cognitive consequences of early versus late antiepileptic drug withdrawal after pediatric epilepsy surgery, the TimeToStop (TTS) trial: study protocol for a randomized controlled trial

(2015) Kim Boshuisen et al.   Trials

Epilepsy surgery in children and adults

(2014) Philippe Ryvlin et al.   LANCET NEUROLOGY

Cognitive outcome after epilepsy surgery in children

(2013) Monique M.J. Van Schooneveld et al.   BRAIN & DEVELOPMENT

Reduction of seizure frequency after epilepsy surgery in a patient withSTXBP1encephalopathy and clinical description of six novel mutation carriers

(2013) Sarah Weckhuysen et al.   EPILEPSIA

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

(2010) Ingmar Blümcke et al.   EPILEPSIA

Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies

(2009) Patrick Kwan et al.   EPILEPSIA