Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies

Dystroglycanopathy is a group of muscular dystrophies caused by deficient glycosylation of α-dystroglycan (α-DG) and exhibits high clinical and genetic heterogenicity. A variety of reported genes have been associated with dystroglycanopathy, including POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, ISPD, POMGNT2, POMK, TMEM5, B3GALNT2 and so on [1]. Dystroglycanopathy causes a wide spectrum of clinical severities. The severe phenotypes include Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD).

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Transition to adult care in epilepsy: a systematic review

Every year, around 1.1 million children with epilepsy become adults (1, 2). This occurs during adolescence, an important stage for physical and psychological development. While this phase of life is challenging for anyone, young persons with epilepsy (YPE) often have extra difficulties such as social stigma, mental health and neurodevelopmental issues, isolation, and perceived lack of independence (3-5). YPE have worse psychosocial outcomes in adulthood, even those with pharmacoresponsive epilepsy syndromes associated with intelligence quotients (IQ) within the normal range ...

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Epilepsy diagnosis after Covid-19: a population-wide study

Whether SARS-CoV-2 infects, and how it affects, the central nervous system (CNS) in the acute phase of disease has been an issue of research and discussion during the Covid-19 pandemic. The virus does not appear to be highly neurotropic or neuroinvasive, although rare cases of SARS-CoV-2 related encephalitis have been described [1].

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Improved understanding of non-epileptic seizures and reduced emergency health care usage following a single psychoeducational group for children and their parents

Non-epileptic seizures (NES) are events that resemble the appearance of epileptic seizures but are not associated with electrophysiological changes characteristic of epilepsy [1]. NES come under the umbrella term of Somatic Symptom and Related Disorders and are classified as Conversion Disorder (Functional Neurological Symptom Disorder) in the DSM-5, or Dissociative neurological symptom disorder as classified in the ICD-11 [2,3].

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Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report

Syntaxin-binding protein 1 (STXBP1) is predominantly expressed in the brain and plays an important role in synaptic vesicle docking and fusion [1]. STXBP1 mutations were first reported in patients with Ohtahara syndrome (OS) [2]. Subsequently, various phenotypes of these mutations have been identified, including West syndrome (WS), unclassified early-onset epileptic encephalopathy, and intellectual disability without epilepsy [3].

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Altered dynamic functional connectivity of striatal-cortical circuits in Juvenile Myoclonic Epilepsy

Juvenile myoclonic epilepsy (JME) is one of the most common idiopathic generalized epilepsies (IGE), accounting for up to 10% of all epilepsies. It is characterized by the main features of myoclonus with generalized spike-and-wave (GSWDs) and polyspike-and-waves on EEG [1]. The seizures in JME often start and terminate through a sudden transition and the pathophysiology of JME remains unknown. In general, JME is considered involving wide brain networks including cortical and subcortical networks, especially the fronto-thalamic networks [2].

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Identifying obstructive sleep apnea in patients with epilepsy: a cross-sectional multicenter study

Obstructive sleep apnea (OSA) is a breathing disorder characterized by intermittent narrowing or collapse of the upper airway during sleep[1]. The prevalence estimates of OSA in patients with epilepsy vary widely, ranging from 10% to 88.9%[2–3]. The risk factors for OSA in patients with characteristics of epilepsy have not been identified conclusively. Data on the association between risk of OSA and disease characteristics and AED use in patients with epilepsy with epilepsy are very limited. A study from the Cleveland ...

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Scaling up monitoring of risk minimization measures in women of childbearing age with anti-seizure medicines.

Kikuchi and colleagues must be commended for having investigated the temporal trends in prescribed anti-seizure medicines (ASMs) in Japanese women. [1] Indeed, ASMs’ teratogenicity has been by passed for too long: while first reports of valproate teratogenicity having been published in 1982, risk immunization measures were only issued in the mid 2010’s in Europe [2]. However, we are afraid that Kikuchi and colleagues’ report similarly illustrated how concerns for ASMs’ teratogenicity are not adequate in Japan yet.

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