We reviewed records of 5,000 epileptic patients and identified 154 cases of partial epilepsy with seizure onset in the first 3 years of life. Of these, 35 patients had initial partial seizures. In 57 patients, partial seizures were preceded by a hemiclonic seizure, which manifested as status epilepticus in 70%. Generalized seizures were the initial manifestation in 62 patients: 17 grand mal, 14 clonic or myoclonic, and 31 tonic or atonic seizures. Of the 119 patients, 31 showed a seizure free-interval of several years between the initial seizure and the occurrence of partial epilepsy. The atypical initial clinical presentation and the seizure-free interval before occurrence of more characteristic partial seizures raise the possibility that the diagnosis of partial epilepsies in the first years of life may be missed.
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http://dx.doi.org/10.1111/j.1528-1157.1989.tb05345.x | DOI Listing |
Med Sci (Basel)
January 2025
Department of Medical Genetics, Clinical Neurophysiology of Postgraduate Education, V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University, Russian National Research, Krasnoyarsk 660022, Russia.
: Epilepsy is a group of disorders characterized by a cluster of clinical and EEG signs leading to the formation of abnormal synchronous excitation of neurons in the brain. It is one of the most common neurological disorders worldwide; and is characterized by aberrant expression patterns; both at the level of matrix transcripts and at the level of regulatory RNA sequences. Aberrant expression of a number of microRNAs can mark a particular epileptic syndrome; which will improve the quality of differential diagnosis.
View Article and Find Full Text PDFNeurochem Res
January 2025
Department of Pathophysiology, Medical University of Lublin, 20-090, Lublin, Poland.
Methionine sulfoximine (MSO) is a compound originally discovered as a byproduct of agene-based milled flour maturation. MSO irreversibly inhibits the astrocytic enzyme glutamine synthase (GS) but also interferes with the transport of glutamine (Gln) and of glutamate (Glu), and γ-aminobutyric acid (GABA) synthesized within the Glu/Gln-GABA cycle, in this way dysregulating neurotransmission balance in favor of excitation. No wonder that intraperitoneal administration of MSO has long been known to induce behavioral and/or electrographic seizures.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
January 2025
Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
The RYR3 gene encodes a brain-type ryanodine receptor that functions to release calcium from intracellular storage and plays an essential role in calcium signaling. The associations between RYR3 variants and brain disorders remain unknown. We performed whole-exome sequencing in patients with idiopathic (non-lesional) partial epilepsy of unknown etiology.
View Article and Find Full Text PDFAnn Clin Transl Neurol
January 2025
Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Objective: Interpretation of clinical genetic testing, which identifies a potential genetic etiology in 25% of children with epilepsy, is limited by variants of uncertain significance. Understanding functional consequences of variants can help distinguish pathogenic from benign alleles. We combined automated patch clamp recording with neurophysiological simulations to discern genotype-function-phenotype correlations in a real-world cohort of children with SCN1A-associated epilepsy.
View Article and Find Full Text PDFNeurosurg Rev
January 2025
Department of neurosurgery, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Epilepsy is a common neurological disease that is treated with medications; however, patients with drug-resistant epilepsy, commonly intractable temporal lobe epilepsy, tend to have better control with surgical treatment. While the mainstay of surgical treatment is anterior temporal lobectomy, it carries risk of potential adverse effects hence minimally invasive techniques are now being used as an alternative to open surgery. This systematic review and meta-analysis compare the efficacy and safety of three of the most used techniques: laser interstitial thermal therapy (LITT), radiofrequency ablation (RFA) and stereotactic radiosurgery (SRS).
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