Reactive plasticity and synaptogenesis might correlate lesion size, leading to differences in epilepsy development in malformations of the polymicrogyria spectrum.

Schizencephaly is a severe malformation of the polymicrogyria spectrum that presents several anatomical particularities between patients, such as open or closed lips into the ventricles, different cleft size, bilaterality or unilaterality and location. Although correlated with epilepsy since its description in 1946, the contribution of such anatomical differences to its development and severity was unclear until the work of Kim et, al [1]. Analysing adult epileptic patients diagnosed with schizencephaly, they have elegantly shown that epilepsy severity is directly correlated ...

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Resective epilepsy surgery for West syndrome: The Hypsarrhythmic Asymmetric Scoring Scheme is a determining predictor of seizure outcome

West syndrome is an age-specific epileptic encephalopathy characterized by epileptic spasms that occur in clusters, a hypsarrhythmic electroencephalographic (EEG) pattern, and developmental delay. The resolution of hypsarrhythmia and cessation of spasms are the principal goals of effective treatment [1–3]. Administration of vigabatrin, adrenocorticotrophic hormone (ACTH), and corticosteroids, alone or in combination, remains the standard therapy for West syndrome [4–7]. This “all-or-none” treatment endpoint was believed to be associated with the best cognitive and neurodevelopmental outcomes, including reduced evolution to other ...

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A Review On Role Of Metformin As a Potential Drug For Epilepsy Treatment And Modulation Of Epileptogenesis

Epilepsy is a chronic neurological disorder that is personified with a high propensity to develop seizures; and is associated with social, cognitive, and psychological consequences [1]. Epilepsy contributes to a third of the burden of neurological diseases worldwide, affecting about 65 million people [2,3]. Seizures may be a result of almost any neurological insult, including trauma, tumors, infection, autoimmune diseases, genetic mutations, etc. Care for persons with epilepsy currently aims at reducing seizure frequency, minimising adverse effects of anti-seizure medications ...

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Investigation of novel de novo KCNC2 variants causing severe developmental and early-onset epileptic encephalopathy

Voltage-gated potassium (K+) channels of the Kv3 family are believed to facilitate high-frequency (>500 Hz) firing of action potentials (APs). The Kv3 channels have unique biophysical properties, including high thresholds of channel activation, rapid activation/deactivation kinetics, and relatively large conductance[1–5]. To date, four Kv3 genes have been identified in the mammalian brain: KCNC1, KCNC2, KCNC3, and KCNC4. They alternatively produce different splice variants that generate multiple channel-protein isoforms (Kv3.1, Kv3.2, Kv3.3, and Kv3.4)[6, 7].

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MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms

: Mutations in the MED13 gene are reported in the literature in association with clinically variable, neurodevelopmental disorders, which are characterized by mild-to-severe intellectual disability, autism spectrum disorder, attention deficit/hyperactivity disorder, epilepsy, ocular or skeletal abnormalities, congenital cardiac defects, and facial dysmorphisms. Here, we report a patient with an epileptic phenotype carrying a novel missense mutation characterized by developmental and epileptic encephalopathy with infantile spasms.

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Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study

The World Health Organisation (WHO) estimates the global burden of epilepsy at 50 million people, with 80% living in resource-constrained countries [1]. Epilepsy prevalence is higher in Africa compared to the rest of the world, with young children, especially < 1 year of age, especially burdened [2]. The problem of epilepsy in Africa is huge, with a significant contribution from perinatal injuries, central nervous system infections and traumatic brain injury [3]. However, in Africa, about 60 -70 % of patients ...

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Barriers to Epilepsy Surgery in Pediatric Patients: A Scoping Review

Pediatric epilepsy is the most common chronic neurological disease in children, affecting 0.5-2% of children worldwide, with an overall incidence rate ranging from 0.21 to 1.87 per 1000 person-years1-4. Medical management with anti-seizure medications (ASM1) serves as initial treatment. However, 10-40% of afflicted children fail to respond to optimal pharmacological therapy.5-7 Drug-resistant epilepsy (DRE) is associated with higher rates of functional disability, morbidity, mortality, and diminished quality of life for patients and their families, independent of intellectual disabilities.

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