Transition to adult life in the monogenic epilepsies

IE Scheffer, C Dravet�- Epilepsia, 2014 - Wiley Online Library
There are many monogenic disorders associated with epilepsy that begin in childhood and
persist into adult life. Each of these disorders raises specific issues for transition, in addition�…

Infantile, childhood, and adolescent epilepsies

E Wirrell�- CONTINUUM: Lifelong Learning in Neurology, 2016 - journals.lww.com
Abstract Purpose of Review: Infantile, childhood, and adolescent epilepsies comprise a
diverse group of entities. Careful characterization of epilepsy into a specific electroclinical�…

How Dravet syndrome became a model for studying childhood genetic epilepsies

C Dravet�- Brain, 2012 - academic.oup.com
In this issue of Brain, Brunklaus et al. report a study of 241 patients with Dravet syndrome
carrying a SCN1A mutation, with the aim of identifying predictors of developmental outcome�…

Advances on the genetics of mendelian idiopathic epilepsies

S Baulac, M Baulac�- Neurologic clinics, 2009 - neurologic.theclinics.com
More than 50 epilepsy syndromes are described and they are broadly divided into
generalized and partial syndromes reflecting the evidence that some seizures are generated�…

Evaluation of the child with developmental impairments

CDM van Karnebeek�- CONTINUUM: Lifelong Learning in�…, 2018 - journals.lww.com
PURPOSE OF REVIEW Epilepsy syndromes are an important clinical construct in pediatric
epilepsy, as they encompass recognizable patterns seen in patients with epilepsies�…

[PDF][PDF] Response: Do all individuals with Dravet syndrome have intellectual disability?

SM Zuberi, E Wirrell, P Tinuper, R Nabbout�- Epilepsia, 2024 - eprints.gla.ac.uk
Dear Editor, We are grateful for the opportunity to respond to the letter: Do all individuals
with Dravet syndrome have intellectual disability? from Reilly and colleagues. 1 The authors�…

Genetics of idiopathic epilepsies

R Nabbout, IE Scheffer�- Handbook of clinical neurology, 2013 - Elsevier
One of the most exciting areas in epilepsy has been the explosion in our understanding of
the genetics of the epilepsies over the last decade. Built on a long history of careful clinical�…

Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies

ML Benevides, HT de Moraes, DMM Granados…�- Epilepsy & Behavior, 2024 - Elsevier
Objective: To evaluate the clinical predictors of positive genetic investigation in
developmental and epileptic encephalopathies, beyond the influence of Dravet Syndrome�…

Dravet syndrome: early electroclinical findings and long‐term outcome in adolescents and adults

F Darra, D Battaglia, C Dravet, M Patrini, F Offredi…�- …, 2019 - Wiley Online Library
To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted
a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1)�…

Epilepsy syndromes of childhood and adolescence

A McTague�- Paediatrics and Child Health, 2013 - Elsevier
Epilepsy syndromes are defined as distinctive disorders identifiable on the basis of a typical
age of onset, specific EEG characteristics, seizure types, and other features. A wide range of�…