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

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

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

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

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

(2018) Stephanie Oates et al.   npj Genomic Medicine

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

(2016) Paolo Tinuper et al.   NEUROLOGY

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

Mutations inKCNT1cause a spectrum of focal epilepsies

(2015) Rikke S. Møller et al.   EPILEPSIA

Co-occurring malformations of cortical development andSCN1Agene mutations

(2014) Carmen Barba et al.   EPILEPSIA

Post-surgical outcome for epilepsy associated with type I focal cortical dysplasia subtypes

(2014) Samantha L Simpson et al.   MODERN PATHOLOGY

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

(2014) Charlotte Dalen Meurs-van der Schoor et al.   Frontiers in Pediatrics

Dysfunction of KCNK Potassium Channels Impairs Neuronal Migration in the Developing Mouse Cerebral Cortex

(2012) Yuki Bando et al.   CEREBRAL CORTEX

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

(2012) Sarah E Heron et al.   NATURE GENETICS

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

Expression and localization of voltage dependent potassium channel Kv4.2 in epilepsy associated focal lesions

(2009) E. Aronica et al.   NEUROBIOLOGY OF DISEASE

Nodular heterotopia: A neuropathological study of 24 patients undergoing surgery for drug-resistant epilepsy

(2008) Alessandra Meroni et al.   EPILEPSIA

Mechanisms of Epileptogenesis in Tuberous Sclerosis Complex and Related Malformations of Cortical Development with Abnormal Glioneuronal Proliferation

(2007) Michael Wong   EPILEPSIA