New GABA-targeting therapies for the treatment of seizures and epilepsy: I. Role of GABA as a modulator of seizure activity and recently approved medications acting …

E Perucca, M Bialer, HS White - CNS drugs, 2023 - Springer
Abstract γ-Aminobutyric acid (GABA) is the most prevalent inhibitory neurotransmitter in the
mammalian brain and has been found to play an important role in the pathogenesis or the …

[HTML][HTML] CDKL5 Deficiency Disorder

TA Benke, S Demarest, K Angione, J Downs… - GeneReviews® …, 2024 - ncbi.nlm.nih.gov
CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy (DEE)
characterized by severe early-onset intractable epilepsy and motor, cognitive, visual, and …

Caregiver perspective of benefits and side effects of anti-seizure medications in CDKL5 deficiency disorder from an international database

K Wong, M Junaid, S Alexander, HE Olson… - CNS drugs, 2024 - Springer
Background and Objective CDKL5 deficiency disorder presents as a challenging condition
with early-onset refractory seizures, severe developmental delays, and a range of other …

Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study

D Palacios‐Ceña, J Güeita‐Rodríguez… - … Medicine & Child …, 2024 - Wiley Online Library
Aim To describe the experiences and unmet medical care needs of a group of parents of
children with developmental and epileptic encephalopathies (DEEs) caused by the SCN1A …

Gut microbiota profile in CDKL5 deficiency disorder patients

E Borghi, O Xynomilakis, E Ottaviano, C Ceccarani… - Scientific Reports, 2024 - nature.com
CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by
global developmental delay, early-onset seizures, intellectual disability, visual and motor …

CDKL5-associated developmental and epileptic encephalopathy: a long-term, longitudinal electroclinical study of 22 cases

F Darra, M Monchelato, M Loos, M Juanes… - Epilepsy Research, 2023 - Elsevier
Objective The study was conducted to analyze the possible diagnostic value of the
electroclinical semiology of the epileptic seizures. Methods We evaluated the medical …

Learnings in developmental and epileptic encephalopathies: what do we know?

MG Perinelli, A Riva, E Amadori, R Follo… - Expert Review of …, 2023 - Taylor & Francis
ABSTRACT Introduction Developmental and Epileptic Encephalopathies (DEEs)
encompass a group of neurological disorders caused by either abnormal neuronal …

Gastrointestinal dysfunction in genetically defined neurodevelopmental disorders

EA Davidson, C Holingue… - Seminars in …, 2023 - thieme-connect.com
Gastrointestinal symptoms are common in most forms of neurodevelopment disorders
(NDDs) such as in autism spectrum disorders (ASD). The current patient-reported outcome …

Growth patterns in individuals with CDKL5 deficiency disorder

K Wong, G Davies, H Leonard, J Downs… - … Medicine & Child …, 2024 - Wiley Online Library
Aim To compare growth in individuals with cyclin‐dependent kinase‐like 5 (CDKL5)
deficiency disorder with population norms and to investigate the effect of gastrostomy on …

Ganaxolone: a new treatment for CDKL5 deficiency disorder

DG Vossler - Epilepsy Currents, 2022 - journals.sagepub.com
Safety and Efficacy of Ganaxolone in Patients With CDKL5 Deficiency Disorder: Results
From the Double-Blind Phase of a Randomised, Placebo-Controlled, Phase 3 Trial Knight …