Epilepsy and Seizure News
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PubMed
A homozygous missense variant in NRROS gene is associated with intracranial calcifications, neurodegeneration, and severe infantile epilepsy syndrome -
Biallelic loss-of-function variants in NRROS (Negative regulator of reactive oxygen species, previously LRRC33) cause a progressive neurodegenerative disorder characterized by early-onset seizures with brain calcifications. To date, 16 affected individuals from 13 unrelated families have been reported for this condition. We describe two siblings from a consanguineous family with this disorder, ...
Management of Epilepsy in the Brain Tumour Patient: Current Concepts and Practical Approaches -
Brain Tumour-Related Epilepsy (BTRE) is among the most common, disabling and feared complications of primary and metastatic brain tumours. Seizures cause significant suffering, psychosocial burden, reduced quality of life and lead inevitably to the loss of a driving license. The mechanisms underlying BTRE are multifactorial, including tumour-driven alterations in neuronal excitability and pro-e...
Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy -
Brain-specific serine/threonine kinase (BRSK1; synapses of amphids defective [SAD]-B) encodes an AMP-activated protein kinase (AMPK)-related serine/threonine kinase required for neuronal polarization and synaptic function. An individual with a variant in BRSK1 was identified in the Texome Project, which provides genomic diagnosis to financially disadvantaged individuals in Texas, using AI-MARRV...
Programming parameters affecting seizure reduction in responsive neurostimulation patients at a pediatric center -
CONCLUSIONS: Divergent programming strategies in cortical and thalamic RNS targets result in similar efficacy. Both were effective across differing seizure etiologies and types. These findings support the use of structured, individualized programming protocols in pediatric epilepsy care.
Neurobehavioral outcomes following epilepsy surgery in tuberous sclerosis complex: A retrospective study -
CONCLUSION: Neurobehavioral improvement was often observed following epilepsy surgery in TSC, with seizure outcomes unrelated to neurobehavioral outcomes. However, some worsening of behavior was observed. Many TAND items were not routinely documented in the clinical records, underscoring the need for a more structured, prospective approach to neuropsychiatric comorbidity assessment in TSC.
A novel CUL4B missense variant in a Chinese family with cabezas syndrome and epilepsy: A case report -
No abstract
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