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PURA-related developmental and epileptic encephalopathy: phenotypic and genotypic spectrum
(Wolters Kluwer, 2021)
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
(Nature, 2020)
Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies ...
Rufinamide as add-on therapy in children with epileptic encephalopathies other than Lennox–Gastaut syndrome: A study of 34 patients
(Academic Press Inc Elsevier Science, 2020-07)
Objective: Here, we present a multicenter series of patients with developmental and epileptic encephalopathies (DEE) and related electroclinical patterns (REP) other than Lennox–Gastaut syndrome (LGS) who were treated with ...
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
(2022)
This review aims to provide an updated perspective of epilepsy genetics and precision medicine in adult patients, with special focus on developmental and epileptic encephalopathies (DEEs), covering relevant and controversial ...
PURA-related developmental and epileptic encephalopathy: phenotypic and genotypic spectrum
(Wolters Kluwer, 2021)
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
(Cell Press, 2019)
We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three ...
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
(Lippincott Williams & Wilkins, 2016)
OBJECTIVE:
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
METHODS:
We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, ...
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
(Lippincott Williams & Wilkins, 2016)
OBJECTIVE:
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
METHODS:
We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, ...
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
(Oxford University Press, 2020-08)
Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform ...
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature
(Academic Press Ltd - Elsevier Science Ltd, 2016-02)
Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed ...