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In this report, we describe the case of a 19-year-old female patient with two heterozygous variants in different exons manifesting phenotypically as polyneuropathy and later with a first stroke-like episode (SLE) and seizures. This has not been reported earlier. The patient suffered from -related neuropathy since the age of 14 and was admitted for her first SLE, which manifested clinically as hemianopia and two days later led to impaired consciousness, hemiparesis, seizures, and status epilepticus.
View Article and Find Full Text PDFPhenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants.
Epilepsia Open
March 2025
Department of Neurosurgery, Epilepsy Center, Tsinghua University Yuquan Hospital, Beijing, China.
Objective: To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2-related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery.
Methods: We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4 boys) treated for COL4A1/2-related epilepsy at Tsinghua University Yuquan Hospital.
Results: Two of the probands had COL4A1 variants and six had COL4A2 variants.
Clinical outcomes of cryptogenic new onset refractory status epilepticus (NORSE) in a tertiary hospital in Singapore: a case series.
Neurol Sci
March 2025
Division of Neurology, Department of Medicine, National University Health System, 5 Lower Kent Ridge Rd, Singapore, 119074, Singapore.
Background: New Onset Refractory Status Epilepticus (NORSE) is a neurological emergency with high mortality. Cryptogenic NORSE (cNORSE) is defined by a lack of an identifiable structural, toxic or metabolic etiology despite extensive workup. Survivors often develop significant long-term neurological sequelae and drug-resistant epilepsy.
View Article and Find Full Text PDFPoint-of-care EEG in the pediatric emergency department: a systematic review.
Eur J Pediatr
March 2025
Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Unlabelled: Central nervous system (CNS) disorders, including seizures, status epilepticus (SE), and altered mental status, constitute a significant proportion of cases presenting in the pediatric emergency department. EEG is essential for diagnosing nonconvulsive SE, but standard EEG is often unavailable due to resource constraints. Point-of-care EEG (pocEEG) has emerged as a viable alternative, offering rapid bedside assessment.
View Article and Find Full Text PDFCan lactate levels predict progression to status epilepticus in generalized convulsive epileptic seizures?
Neurol Res
March 2025
Erdemli State Hospital, Emergency Medicine Clinic, Mersin, Turkey.
Objective: The aim of this study was to analyze the factors predicting the progression to status epilepticus (SE) in patients who presented with generalized convulsive epileptic (GCE) seizures.
Materials And Methods: Patients included in the study were grouped as SE (+) and (-) patients. In addition to hemogram, biochemistry and blood gas parameters, the levels of antiepileptic drugs used by the patients at the time of presentation to the emergency department (ED) were also studied.
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