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Cognitive impairment in people with epilepsy: Montreal Cognitive Assessment (MoCA) as a screening tool
ObjectivesAlthough cognitive impairment is common in people with epilepsy, it is often neglected in outpatient clinics. MoCA is a simple and reliable...
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Inter-ictal fatigue and antiepileptic drugs in patients with epilepsy
Fatigue is a frequently reported symptom in patients with epilepsy (PWE) while the pathophysiology, causes and effects on the disease are not yet...
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Therapeutic Drug Monitoring of Lacosamide in Chinese Pediatric Patients with Epilepsy: Efficacy and Factors Influencing the Plasma Concentration
Background and ObjectiveThe impact of individual patient variables on drug metabolism is particularly important for antiseizure medication, and...
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A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family
BackgroundDevelopmental and epileptic encephalopathies (DEEs) are a heterogeneous group of severe disorders that are characterized by early-onset,...
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A presumed missense variant in the U2AF2 gene causes exon skip** in neurodevelopmental diseases
U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an indispensable pre-mRNA splicing factor in the early process of splicing. Recently, U2AF2 was...
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Polypharmacology in Clinical Applications: Neurological Polypharmacology
Neurological disorders include diverse subgroups, including neuromuscular diseases, genetic and metabolic disorders, developmental delay, traumatic...
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A novel BRAF::PTPRN2 fusion in meningioma: a case report
Gene fusion events have been linked to oncogenesis in many cancers. However, gene fusions in meningioma are understudied compared to somatic...
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The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus
HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 ...
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Crossed cerebellar Diaschisis in mesial temporal sclerosis: a rare clinical entity
Crossed cerebellar diaschisis (CCD) is a phenomenon of functional diaschisis that occurs after damage to the cerebral hemisphere and results in...
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ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay
The cause of epilepsy with or without developmental disorders was unidentified in a significant proportion of patients. Whole exome sequencing was...
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Levetiracetam enhances the temozolomide effect on glioblastoma stem cell proliferation and apoptosis
BackgroundGlioblastoma multiforme (GBM) is a highly aggressive brain tumor in which cancer cells with stem cell-like features, called cancer stem...
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Post-traumatic Epilepsy and Neuropsychiatric Comorbidities
Post-traumatic epilepsy (PTE) is a form of acquired epilepsy that arises from traumatic brain injury (TBI). It presents a complex relationship with...
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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
BackgroundPhelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an...
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Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability
In Kazakhstan, there is insufficient data on genetic epilepsy, which has its own clinical and management implications. Thus, this study aimed to use...
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Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review
CAPZA2 encodes the α2 subunit of CAPZA, which is vital for actin polymerization and depolymerization in humans. However, understanding of diseases...
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Regulatory Perspective of Additive Manufacturing in the Field of Pharmaceuticals
Spritam® is the first 3D printed drug product approved by the FDA for clinical use. 3D printed drug product has to meet the standards of identity,...
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Population pharmacokinetics of topiramate in Chinese children with epilepsy
ObjectiveTopiramate, a broad-spectrum antiepileptic drug, exhibits substantial inter-individual variability in both its pharmacokinetics and...
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