Topiramate in the treatment of severe myoclonic epilepsy in infancy [PDF]
The aim of this study was to assess the effectiveness of topiramate (TPM) as an add-on regimen in reducing seizure rate in a population sample of patients diagnosed with severe myoclonic epilepsy in infancy (SME). Eighteen patients were evaluated.
Nieto-Barrera, M+4 more
core +1 more source
Rare dysfunctional SCN2A variants are associated with malformation of cortical development
Abstract Objective SCN2A encodes the voltage‐gated sodium (Na+) channel α subunit NaV1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
Jérôme Clatot+19 more
wiley +1 more source
Guideline Update to Treatment of Infantile Spasms
The Guideline Developmental Subcommittee of the AAN and the Practice Committee of the CNS update the 2004 practice parameter on treatment of infantile spasms (IS).
J Gordon Millichap
doaj +1 more source
Longer Duration of Epilepsy and Earlier Age at Epilepsy Onset Correlate with Impaired Cognitive Development in Infancy [PDF]
We assessed the impact of age at onset of epilepsy and duration and frequency of seizures on cognitive development in children less than 3 years old. Retrospective analysis was conducted on clinical data and neuropsychological testing of 33 infants with ...
Vendrame, Martina
core +2 more sources
Extracting epilepsy‐related information from unstructured clinic letters using large language models
Abstract Objective The emergence of large language models (LLMs) and the increasing prevalence of electronic health records (EHRs) present significant opportunities for advancing health care research and practice. However, research that compares and applies LLMs to extract key epilepsy‐related information from unstructured medical free text is under ...
Shichao Fang+7 more
wiley +1 more source
Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse
Recent findings in mice with targeted deletion of the GABA‐metabolic enzyme succinic semialdehyde dehydrogenase revealed a new role for supraphysiological GABA (4‐aminobutyric acid) in the activation of the mechanistic target of rapamycin (mTOR) that ...
K. Vogel+4 more
semanticscholar +1 more source
Open‐label CBD treatment was associated with sustained seizure reduction through 144 weeks, with a consistent safety profile in patients with treatment‐resistant focal epilepsies, regardless of epilepsy type. Abstract Objective Cannabidiol (CBD) treatment was associated with long‐term seizure reduction in patients with various treatment‐resistant ...
Anup D. Patel+8 more
wiley +1 more source
UK Multicenter Randomized Trial of Hormonal Treatments Vs Vigabatrin for Infantile Spasms
The UK Infantile Spasms Multicenter Study previously showed that seizure control after 14 days and development at 14 months are better following hormonal treatments (prednisolone or tetracosactide depot) than following vigabatrin.
J Gordon Millichap
doaj +1 more source
Trends in long-term prescribing of dependence forming medicines [PDF]
Using patient-level primary care data to estimate the extent to which antidepressant medicines are prescribed to people continuously for long periods of time.
McManus, S.+3 more
core
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. [PDF]
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem genetic disorder characterized by benign tumors in multiple organs, including the skin, brain, kidneys, and lungs and occasional malignant tumors.
Adriaensen+32 more
core +5 more sources