Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy
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 …
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 …
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 …
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 …
epileptic encephalopathies associated with seizure and nonseizure symptoms. A …
Epidemiology of developmental and epileptic encephalopathy and of intellectual disability and epilepsy in children
Background and Objectives We aimed to determine the population-based cumulative
incidence and prevalence of developmental and epileptic encephalopathies (DEEs) and …
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 …
surgically-remediable, focal epilepsy, often in seemingly MRI-negative patients. We describe …
The role of common genetic variation in presumed monogenic epilepsies
Background The developmental and epileptic encephalopathies (DEEs) are the most severe
group of epilepsies which co-present with developmental delay and intellectual disability …
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 …
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
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 …
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 …
epileptic encephalopathies (DEEs). Method Over 2 years, patients with DEEs were recruited …