Risk factors predisposing to psychotic symptoms during levetiracetam therapy: A retrospective study
Publication date: November 2019Source: Epilepsy &Behavior, Volume 100, Part AAuthor(s): Florentina M.E. Pinckaers, Mebeline E. Boon, Marian H.J.M. MajoieAbstractPurposeWhile levetiracetam (LEV) usage is a known risk factor for psychosis in epilepsy, the modulating effect of certain patient and treatment characteristics on the risk of psychosis has yet to be fully elucidated.MethodsIn our tertiary epilepsy center, 84 patients with psychotic symptoms during LEV usage and 100 controls without psychotic symptoms during LEV usage were selected. Patient records were reviewed including demographics, medical history, antiepileptic drug use, and cognitive abilities. Univariate comparisons were performed, and variables with p
Contributor : Lisa StubbsSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusAUTS2 was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder (ASD), intellectual disability, and epilepsy. Since that initial finding, AUTS2-linked mutations and variants have been associated with a very broad array of neuropsychiatric disorders, suggesting that AUTS2 is required for fundamental steps of neurodevelopment. However, genotype-phenotype correlations in this region are complicated, because most mutations could also involve neighboring genes. Of ...
Conclusion: Although KCN has been associated with LCA4, this type of LCA is typically moderate in severity and variable between patients. The present cases also have some systemic abnormalities. PMID: 31576779 [PubMed - in process]
Lissencephaly is a severe brain malformation in which failure of neuronal migration results in agyria or pachygyria and in which the brain surface appears unusually smooth. It is often associated with microcephaly, profound intellectual disability, epilepsy, and impaired motor abilities. Twenty-two genes are associated with lissencephaly, accounting for approximately 80% of disease. Here we report on 12 individuals with a unique form of lissencephaly; these individuals come from eight unrelated families and have bi-allelic mutations in APC2, encoding adenomatous polyposis coli protein 2.
We report a new family with two affected individuals. The proband presented with slight early developmental delay and clumsiness. At 3y6m, he experienced a tonic-clonic seizure that later evolved into intractable epilepsy. Progressive regression of intellect and motor skills, and disturbed behavior were evident since 8-9y.
Mutations in the ubiquitin-like modifier activating enzyme 5 (UBA5) gene were recently identified to cause childhood-onset cerebellar ataxia and infantile-onset epileptic encephalopathy, disorders predominantly associated with the central nervous system. Cerebellar ataxia patients show cerebellar atrophy and motor dysfunction; whereas, the clinical symptoms associated with epileptic encephalopathy include reduced motor skills, developmental delay, intellectual disability, microcephaly, delayed brain myelination, and recurrent seizures, ultimately resulting in the death of most patients before the age of twenty.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is associated with increased risk for ASD, anxiety, ADHD, and epilepsy. Although our understanding of FXS pathophysiology has improved, a lack of validated blood-based biomarkers of disease continues to impede bench-to-bedside efforts. As a biomarker target in FXS, amyloid- β (Aβ) precursor protein (APP) is best understood in the context of Alzheimer disease; there is a growing body of evidence suggesting that the molecule and its derivatives play a broader role in neuronal hyperexcitability, a characteristic of FXS.
We describe the case of a 12-year-old girl who was diagnosed with DS and was scheduled to have gingival reduction around her mandibular molars. Despite the patient being intellectually disabled, she was able to cooperate somewhat during medical procedures, including intravenous cannulation. Under the assumption that the major problem with anesthesia for DS would be the regulation of body temperature-induced seizures, we used body temperature management equipment to maintain the patient's body temperature during the procedure. We opted for intravenous sedation and administered a total dose of 4.5 mg midazolam throughout the...
CONCLUSIONS: The results of our study provide empirical insight into the first-time prevalence of victimization among children with disability, and into the predicative association between family disadvantages and victimization. PMID: 31561190 [PubMed - as supplied by publisher]
AbstractDravet syndrome is a rare but severe epilepsy syndrome that begins in the first year of life with recurrent seizures triggered by fever that are typically prolonged and hemiclonic. The epilepsy is highly drug resistant. Although development is normal at onset, over time, most patients develop moderate-to-severe intellectual disability, behavior disorders, and a characteristic crouch gait. There is a significant mortality, predominantly owing to sudden unexpected death in epilepsy. Complete seizure control is rarely attainable. Initial therapy includes valproic acid and clobazam, but response is typically inadequate...