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The prognosis for febrile seizures -
Febrile seizures occur in 2-5% of children aged 6 months to 5 years. Simple febrile seizures are usually benign, while complex ones may indicate an increased risk of epilepsy later. Factors such as seizure type, frequency, duration, neurodevelopmental delay, early age at onset, family history of epilepsy and abnormal EEG findings are found to correlate with a higher risk of epilepsy. This revie...
Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report -
Progressive myoclonus epilepsy (PME) is a severe developmental and epileptic encephalopathy characterized by drug-resistant seizures and progressive neurological regression. In the late stage, patients often develop myoclonic status epilepticus (MSE), for which an optimal treatment has not been established. Neuronal ceroid lipofuscinosis type 8 (NCL8), caused by pathogenic variants in the CLN8 ...
Cannabidiol Use in Developmental and Epileptic Encephalopathies: A Syndrome- and Age-Stratified Systematic Review and Meta-analysis -
CONCLUSIONS: Pharmaceutical-grade CBD is associated with clinically meaningful seizure reduction in roughly half of patients with DEE, mirroring pivotal RCT results in DS and LGS. Nevertheless, substantial between-study heterogeneity and low-credibility subgroup signals preclude confident attribution of superior efficacy to any specific subgroup. These findings should be interpreted cautiously ...
Identification of a putative founder effect involving the HACE1:c.1396C>T variant in two Iranian families and review of reported cases -
CONCLUSION: Our findings support a putative founder effect, suggesting that the HACE1:c.1396C> T variant likely represents a founder variant within the Iranian population and, to our knowledge, mark the first report of SPPRS-causing variants from Iran. Beyond expanding the known genetic spectrum, this study highlights phenotypic heterogeneity, even among patients sharing the same genotype, and ...
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes? -
Fibroblast growth factor-12 (FGF12) variants have been associated with developmental and epileptic encephalopathy (DEE) with evidence of modulation of voltage-gated sodium channels Na(v)1.2 and Na(v)1.6. We aim to expand the phenotypic spectrum of FGF12-related epilepsy with emphasis on precision therapy. We describe 12 patients: eight with neonatal onset seizures with the recurrent p.Arg52His ...
Thalamo-cortical synchrony shapes seizure expression in human temporal lobe epilepsy -
In drug-resistant temporal lobe epilepsy (DR-TLE), some seizures are clinically symptomatic while others remain electrographic despite arising from the same seizure-onset zone (SOZ), suggesting that clinical expression reflects network dynamics beyond seizure origin. We examined whether thalamo-cortical network engagement differs between clinical (CS) and non-clinical seizures (NCS). We analyze...
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