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

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

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

Epilepsy

(2018) Orrin Devinsky et al.   Nature Reviews Disease Primers

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

(2018) Stephanie Oates et al.   npj Genomic Medicine

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

(2017) Piero Perucca et al.   EPILEPSY RESEARCH

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

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

Precision therapy for epilepsy due toKCNT1mutations

(2017) Saul A. Mullen et al.   NEUROLOGY

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

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

(2016) Paolo Tinuper et al.   NEUROLOGY

Mutations in the mammalian target of rapamycin pathway regulatorsNPRL2andNPRL3cause focal epilepsy

(2015) Michael G. Ricos et al.   ANNALS OF NEUROLOGY

The evolving spectrum ofPRRT2-associated paroxysmal diseases

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

(2014) Carol J. Milligan et al.   ANNALS OF NEUROLOGY

Familial risk of epilepsy: a population-based study

(2014) Anna L. Peljto et al.   BRAIN

The hidden genetics of epilepsy—a clinically important new paradigm

(2014) Rhys H. Thomas et al.   Nature Reviews Neurology

Genetics of epilepsy: The testimony of twins in the molecular era

(2014) L. Vadlamudi et al.   NEUROLOGY

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

(2013) Dalia Kasperavičiūtė et al.   BRAIN

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

(2013) Leanne M Dibbens et al.   NATURE GENETICS

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

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Importance of genetic factors in the occurrence of epilepsy syndrome type: A twin study

(2011) Linda A. Corey et al.   EPILEPSY RESEARCH

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance

(2010) D. E. Crompton et al.   BRAIN

Methods for Assessing Familial Aggregation: Family History Measures and Confounding in the Standard Cohort, Reconstructed Cohort and Case-Control Designs

(2009) Regina Zimmerman et al.   HUMAN HEREDITY

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability

(2008) Christopher P. Derry et al.   EPILEPSIA

Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features

(2008) M. J. Rosanoff et al.   NEUROLOGY