An epileptic seizure is one of the causes of so-called "transient neurological events" (TNEs). The differential diagnosis of a TNE relies mainly on history and physical examination. Laboratory markers are less frequently useful. After diagnosing an epileptic seizure, a distinction must be made between an acute symptomatic and an unprovoked seizure, since they have different treatments and prognosis. History, physical examination and other examinations (laboratory and imaging) are paramount in this distinction. After the diagnosis of a first unprovoked seizure, an EEG should be requested which may aid in establishing the diagnosis, evaluating the recurrence risk or ascertaining the self-limited nature of the seizure. 3T-MRI with an epilepsy protocol can be considered when CT has not clarified the aetiology. The decision to treat should be discussed with the patient/relatives, taking into account the risk of recurrence, the clinical characteristics (aetiology, seizure type, age, job, epileptic seizure schedule, comorbidities and polymedication), probability of AED side effects, and stigmatization. Nowadays, the chosen regimen is usually monotherapy with a second-generation AED that better suits the patient's characteristics, comorbidities and concurrent medication. Counselling should include first aid, precipitating factors, sport and physical exercise in order to avoid possible driving restrictions, the need for therapy compliance, and risk of recurrence and SUDEP.
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http://dx.doi.org/10.1684/epd.2021.1296 | DOI Listing |
Medicine (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.
View Article and Find Full Text PDFACS Chem Neurosci
January 2025
Laboratory for Innovative Drugs (Lab4IND), Computational Drug Design Center (HITMER), Bahçeşehir University, 34734 İstanbul, Türkiye.
is implicated in a range of conditions, including autism spectrum disorder, intellectual disability, seizures, autosomal recessive nonsyndromic intellectual disability, heterotaxy, and ciliary dysfunction. In order to understand the molecular mechanisms underlying these conditions, we focused on the structural and dynamic activity consequences of mutations within this gene. In this study, whole exome sequencing identified the c.
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