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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Structural association between heterotopia and cortical lesions visualised with 7 T MRI in patients with focal epilepsy

Drug resistant epilepsy comprises 30-40% of people suffering from focal epilepsy. High-quality imaging is crucial in the evaluation of drug resistant epilepsy patients, since as many as 50% of these patients may be potential candidates for surgical resection [1, 2]. Magnetic resonance imaging (MRI) preferably using a 3 T system is included in the pre-surgical work up for lesion detection [3]. The most important predictor for good surgical outcome is complete removal of an MRI detectable epileptogenic brain lesion [4, ...

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What does epileptic nystagmus show us in cases presenting acute neurological symptoms?

Epileptic nystagmus is defined as rapid, repetitive eye movement associated with seizure activity. The description of nystagmus is based on the direction of its fast component. The first patients with epileptic nystagmus with corresponding electroencephalography (EEG) were described by Gastaut and Roger [1]. The condition is a rare accompanying clinical phenomenon of epilepsy. Although it may be isolated, it is generally observed together with other ictal clinical findings. Most reported cases of epileptic nystagmus are due to focal ictal discharges ...

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Stimulation induced aura during subdural recording: a useful predictor of postoperative outcome in refractory epilepsy

Intracranial EEG (iEEG) monitoring is often required in preoperative evaluation of patients with refractory epilepsy, especially when noninvasive tests such as MRI, scalp EEG, PET and SPECT, etc. cannot identify the epileptogenic zone (EZ) or its proximity to eloquent cortex.[1, 2] Electrical cortical stimulation (ECS) has been regarded as a critical procedure in iEEG monitoring since 1950s. It was first applied in clinical practice to elicit behavioral responses as well as to localize seizure onset zone (SOZ) in epilepsy patients.

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