Purpose: To characterise bilateral temporal encephalocele (BTE)-associated epilepsy relative to unilateral temporal encephalocele (UTE)-associated epilepsy as a rare but curable cause of structural epilepsy using demographics, epilepsy status and imaging findings.
Method: In this single-centre retrospective study we included all patients from June 2015 to August 2018, who suffered from epilepsy and were diagnosed with a temporal encephalocele. Data were systematically collected and analysed for differences between BTE and UTE.
Results: Seventeen epilepsy patients diagnosed with temporal encephaloceles (TE) were identified. One-third exhibited BTE. The age of epilepsy onset was higher in patients with BTE compared to UTE (median 51 vs. 37 years, p = 0.074). Latency between epilepsy diagnosis and definitive TE diagnosis differed considerably with a median five-fold shorter duration for the BTE-group when compared to the UTE-group (2-10 years, p = 0.02). Five of seven (81%) patients with BTE were pharmacoresistant, while this applied to only five out of ten (50%) patients with a UTE.
Conclusion: When compared to UTE-associated epilepsy, BTE-associated epilepsy is characterised by a later age at onset, shorter delay in TE diagnosis and more frequent drug-resistance. As epilepsy surgery is a valid treatment option for both syndromes, a standardised diagnostic workup should be implemented for temporal lobe epilepsy (TLE) patients with unknown aetiology to facilitate early detection of UTE and BTE.
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http://dx.doi.org/10.1016/j.seizure.2019.05.022 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, CA 92697.
Loss-of-function sequence variants in , which encodes the voltage-gated potassium channel Kv1.1, cause Episodic Ataxia Type 1 (EA1) and epilepsy. Due to a paucity of drugs that directly rescue mutant Kv1.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Department of Neonatal, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, Shandong, China.
Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.
Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.
Medicine (Baltimore)
January 2025
Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, China.
Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.
View Article and Find Full Text PDFChaos
January 2025
Jožef Stefan Institute, Jamova cesta 39, SI-1000 Ljubljana, Slovenia.
Detecting directional couplings from time series is crucial in understanding complex dynamical systems. Various approaches based on reconstructed state-spaces have been developed for this purpose, including a cross-distance vector measure, which we introduced in our recent work. Here, we devise two new cross-vector measures that utilize ranks and time series estimates instead of distances.
View Article and Find Full Text PDFPaediatr Drugs
January 2025
Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.
Oral ganaxolone (ZTALMY), a synthetic analogue of the endogenous neuroactive steroid allopregnanolone, acts as a positive allosteric modulator of synaptic and extra-synaptic γ-aminobutyric acid (GABA) type A receptor function in the CNS. In the EU and the UK, it is approved for the adjunctive treatment of epileptic seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients aged 2-17 years. In a multinational phase III study (Marigold), 17 weeks' therapy with adjunctive ganaxolone, administered orally three times daily with food, significantly reduced 28-day major motor seizure frequency from baseline versus placebo in patients aged 2-19 years with CDD-associated refractory epilepsy.
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