Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy

A Bayat, M Bayat, G Rubboli, RS Møller - Genes, 2021 - mdpi.com
The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst… - …, 2022 - Wiley Online Library
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

International consensus on diagnosis and management of Dravet syndrome

EC Wirrell, V Hood, KG Knupp, MA Meskis… - …, 2022 - Wiley Online Library
Objective This study was undertaken to gain consensus from experienced physicians and
caregivers regarding optimal diagnosis and management of Dravet syndrome (DS), in the …

A systematic literature review on the global epidemiology of Dravet syndrome and Lennox–Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality

J Sullivan, A Benítez, J Roth, JS Andrews, D Shah… - …, 2024 - Wiley Online Library
Dravet syndrome (DS) and Lennox–Gastaut syndrome (LGS) are rare developmental and
epileptic encephalopathies associated with seizure and nonseizure symptoms. A …

Epidemiology of developmental and epileptic encephalopathy and of intellectual disability and epilepsy in children

G Poke, J Stanley, IE Scheffer, LG Sadleir - Neurology, 2023 - AAN Enterprises
Background and Objectives We aimed to determine the population-based cumulative
incidence and prevalence of developmental and epileptic encephalopathies (DEEs) and …

The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia

E Macdonald-Laurs, AEL Warren, P Francis… - Brain, 2024 - academic.oup.com
Bottom-of-sulcus dysplasia (BOSD) is increasingly recognized as a cause of drug-resistant,
surgically-remediable, focal epilepsy, often in seemingly MRI-negative patients. We describe …

The role of common genetic variation in presumed monogenic epilepsies

C Campbell, C Leu, YCA Feng, S Wolking, C Moreau… - …, 2022 - thelancet.com
Background The developmental and epileptic encephalopathies (DEEs) are the most severe
group of epilepsies which co-present with developmental delay and intellectual disability …

Modeling genetic epileptic encephalopathies using brain organoids

DJ Steinberg, S Repudi, A Saleem… - EMBO Molecular …, 2021 - embopress.org
Developmental and epileptic encephalopathies (DEE) are a group of disorders associated
with intractable seizures, brain development, and functional abnormalities, and in some …

Quality of life in caregivers of a child with a developmental and epileptic encephalopathy

EG Robertson, L Kelada, S Best… - … Medicine & Child …, 2024 - Wiley Online Library
Aim To explore the relationship between social care‐related quality of life (SCrQoL) for
caregivers of a child with a developmental and epileptic encephalopathy (DEE; such as …

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

IE Scheffer, CA Bennett, D Gill… - … Medicine & Child …, 2023 - Wiley Online Library
Aim To assess the clinical utility of exome sequencing for patients with developmental and
epileptic encephalopathies (DEEs). Method Over 2 years, patients with DEEs were recruited …