Delineating the epilepsy phenotype of NRROS-related microgliopathy: a case report and literature review

With the advent of next-generation sequencing, the genetic landscape of infantile epileptic encephalopathies including infantile spasms syndrome (ISS) is continuously evolving. This landscape is constituted by a wide array of genes, including those regulating transcription, translation, and protein modification; and those involved in angiogenesis, neurogenesis, neuronal differentiation, neuronal migration, signal transduction, and neurotransmission [1]. Most of these genetic disorders are also associated with developmental delay with or without epilepsy-related regression.

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Delivery of care, seizure control and medication adherence in women with epilepsy during pregnancy

Epilepsy is one of the most common neurological disorders affecting an estimated 50 million people worldwide,[1] 15 million of whom are women of childbearing age.[2] Two to 5 per 1000 babies annually are born to women with epilepsy (WWE).[3], [4] Epilepsy is associated with poorer maternal outcomes and the mortality rate is consistently higher in WWE during pregnancy in comparison to those without.[5,6] The most recent confidential enquiry from MMBRACE-UK identified epilepsy-related death as an important cause of mortality during ...

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Tackling increased risks in older adults with intellectual disability and epilepsy: data from a national multicentre cohort study

Intellectual disability (ID) is neurodevelopmental disorder defined by global deficits in cognitive and adaptive functioning with an onset during the developmental period [1]. A previous meta-analysis demonstrated that more than one in five people with ID are also diagnosed with epilepsy compared with less than 1% in the general population [2,3]. People with ID and epilepsy are a complex heterogeneous population with multifactorial aetiology. This includes the influence of specific genetic syndromes (e.g., Down’s syndrome) on morbidity as people age.

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Focal thalamocortical circuit abnormalities in sleep related epilepsy caused by focal cortical dysplasia type II

As a common form of malformation of cortical development, focal cortical dysplasia (FCD) type II is one of the most common histopathological diagnoses of drug-resistant focal epilepsy in patients undergoing resective epilepsy surgery [1]. FCD type II frequently presents with sleep-related epilepsy (SRE) [2–5], defined as seizures occurring exclusively or predominantly during sleep [6,7]. The pathological substrate of FCD type II increases the risk of SRE in respect of other histopathological substrates, regardless of its location [2,5].

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Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair

The AHDC1 (AT-hook DNA binding motif containing 1, RefSeq number NM_001029882) gene is localized on locus 1p36.11-p35.3 and seems to play a role in DNA repair [1]. De novo truncating mutations of AHDC1 cause Xia-Gibbs syndrome (XGS), whose phenotypical spectrum include developmental delay, hypotonia and speech disturbances, with considerable phenotypic variability [1]. Although seizures have been frequently reported, the epilepsy phenotype is poorly understood.

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Circulating malondialdehyde level in patients with epilepsy: A meta-analysis

Oxidative stress is described as an imbalance in the production and clearance of reactive oxygen species and reactive nitrogen species [1]. Lipids are the most important biomolecules affected by many forms of oxidative stress. Lipid oxidation produces several secondary products, mainly aldehydes, which can intensify oxidative damage. Malondialdehyde (MDA) is the main product of peroxidation of polyunsaturated fatty acids and is also the most studied product [2]. Epilepsy is a neurological disorder that affects at least 50 million people worldwide, ...

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Risk factors and a predictive model for the development of epilepsy after Japanese encephalitis

Central nervous system infections, including acute encephalitis, are a significant cause of epilepsy in children aged 3 and 10 years worldwide [4]. Infection could lead to structural lesions, and could result in epilepsy, such as seizures after the acute phase of viral encephalitis or postencephalitic epilepsy (PEE). PEE is among the common sequelae of acute encephalitis, with an incidence of 5.5%-35%([5, 8, 14, 15, 20, 21, 24, 26, 32];). Brain damage in the acute phase, leading to repeated subsequent seizures, ...

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Stigma in Functional Seizures: A Scoping Review

Functional Seizures (FS) are events consisting of observable paroxysms of altered behaviour patterns or movement with or without loss of consciousness [1]. FS are known by several names, including: as psychogenic nonepileptic seizures (PNES) in the academic writing on the subject [2], as conversion disorder (CD) with seizures in the Diagnostic and Statistical Manual of Mental Disorders – 5 (DSM–5) [3], and as dissociative neurological symptom disorder, with nonepileptic seizures in the International Classification of Diseases 11th Revision (ICD-11) [4].

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