Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review

Cortical Malformations: Lessons in Human Brain Development

(2020) Lakshmi Subramanian et al.   Frontiers in Cellular Neuroscience

Somatic variants in new candidate genes identified in focal cortical dysplasia type II

(2020) Zhongbin Zhang et al.   EPILEPSIA

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

Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia

(2019) Katja Kobow et al.   EPILEPSIA

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

(2019) Michelle Demos et al.   Frontiers in Neurology

A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II

(2019) Shanshan Zhao et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

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

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

(2019) Tamar Sapir et al.   Frontiers in Cellular Neuroscience

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy

(2018) Melodie R. Winawer et al.   ANNALS OF NEUROLOGY

Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia

(2018) Simoni H. Avansini et al.   ANNALS OF NEUROLOGY

Development and application of CRISPR/Cas9 technologies in genomic editing

(2018) Cui Zhang et al.   HUMAN MOLECULAR GENETICS

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

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

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy

(2018) E. Marsan et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Review: The international consensus classification of Focal Cortical Dysplasia - a critical update 2018

(2018) I. M. Najm et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Epigenetics in epilepsy

(2018) K. Kobow et al.   NEUROSCIENCE LETTERS

PRISMA Extension for Scoping Reviews (PRISMA-ScR): Checklist and Explanation

(2018) Andrea C. Tricco et al.   ANNALS OF INTERNAL MEDICINE

The landscape of epilepsy-related GATOR1 variants

(2018) Sara Baldassari et al.   GENETICS IN MEDICINE

Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery

(2018) Barbora Benova et al.   BRAIN PATHOLOGY

Genome-wide DNA Methylation and RNAseq Analyses Identify Aberrant Signalling Pathways in Focal Cortical Dysplasia (FCD) Type II

(2018) Aparna Banerjee Dixit et al.   Scientific Reports

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations

(2018) Guido Rubboli et al.   Annals of Clinical and Translational Neurology

Aberrant Expression of miR-323a-5p in Patients with Refractory Epilepsy Caused by Focal Cortical Dysplasia

(2017) Ningwei Che et al.   Genetic Testing and Molecular Biomarkers

The Epigenetics of Epilepsy and Its Progression

(2017) Rebecca M. Hauser et al.   NEUROSCIENTIST

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias

(2017) Alissa M. D’Gama et al.   Cell Reports

The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary

(2016) David N. Louis et al.   ACTA NEUROPATHOLOGICA

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

(2016) Sarah Weckhuysen et al.   EPILEPSIA

Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

(2016) Ghayda M. Mirzaa et al.   JAMA Neurology

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulatorNPRL3

(2015) Joe C. Sim et al.   ANNALS OF NEUROLOGY

Somatic Mutations in theMTORgene cause focal cortical dysplasia type IIb

(2015) Mitsuko Nakashima et al.   ANNALS OF NEUROLOGY

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

(2015) Alissa M. D'Gama et al.   ANNALS OF NEUROLOGY

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

(2015) Laura A. Jansen et al.   BRAIN

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

Analysis of Altered Micro RNA Expression Profiles in Focal Cortical Dysplasia IIB

(2015) Lin Li et al.   JOURNAL OF CHILD NEUROLOGY

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach

(2015) K. Dörre et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

Serum MicroRNA-4521 is a Potential Biomarker for Focal Cortical Dysplasia with Refractory Epilepsy

(2015) Xiaofeng Wang et al.   NEUROCHEMICAL RESEARCH

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

(2015) R. J. Leventer et al.   NEUROLOGY

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including theAKT3gene

(2014) V. Conti et al.   CLINICAL GENETICS

Co-occurring malformations of cortical development andSCN1Agene mutations

(2014) Carmen Barba et al.   EPILEPSIA

miRNA expression analysis in cortical dysplasia: Regulation of mTOR and LIS1 pathway

(2014) Ji Yeoun Lee et al.   EPILEPSY RESEARCH

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

Scoping studies: advancing the methodology

(2010) Danielle Levac et al.   Implementation Science