Hyperkinetic Movement Disorder in FBXO28-related Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathies (DEEs) are severe pediatric conditions, characterized by epileptic seizures, frequent epileptiform activity on electroencephalogram (EEG), and psychomotor delay or regression. Heterozygous pathogenic variants in FBXO28 gene, encoding a member of the F-box protein family involved in protein ubiquitination cause a developmental and epileptic encephalopathy type 100 (DEE100) [1,2]. So far, only 10 patients with DEE100 have been described worldwide, all presenting refractory epilepsy and severe developmental impairment.

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NEW-ONSET PSYCHOGENIC NONEPILEPTIC SEIZURES AFTER INTRACRANIAL NEUROSURGERY: A META-ANALYSIS

Functional neurological symptom disorder refers to a state in which the normal functioning of brain networks is affected, rather than any structural abnormalities. One of its manifestations is a condition termed psychogenic non-epileptic seizures (PNES), also known as functional or dissociative seizures [1]. These seizures are characterized by clinically similar events to epileptic seizures, although they do not have characteristically abnormal ictal electroencephalogram activities [2], which supports the theory that their occurrences are psychological in nature rather than epileptic.

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Drug-resistant epilepsy and ketogenic diet therapy – a qualitative study of families’ experiences.

Children with drug-resistant epilepsy experience regular debilitating seizures despite treatment with multiple antiseizure medications.[1] It is a life-changing diagnosis for the child and their family, requiring an adjustment to a new ‘normal’, characterised by the unpredictability of seizures and the coexistence of comorbidities[2,3] It is widely accepted that chronic illness, such as epilepsy, presents additional burdens and care needs for parents, increasing their anxiety, stress, and depression.[4,5]

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Continuous epileptiform discharges are associated with worse neurodevelopmental findings in a congenital Zika syndrome prospective cohort

Congenital Zika syndrome (CZS) is a severe condition caused by intrauterine exposure to the Zika virus (ZIKV). It is responsible for a 10 times higher mortality rate in children without the syndrome [1]. The phenotype for CZS varies based on neurological impairment [2,3]. It encompasses a wide spectrum of structural [4] and functional [5] alterations or sequelae in neurodevelopment that children with CZS may present in the first years of life [6].

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Exploring epileptic phenotypes in PRRT2-related disorders: a report of two cases and literature appraisal.

The proline-rich transmembrane protein 2 (PRRT2) is a synaptic protein highly expressed in the central nervous system. It comprises an N-terminal proline-rich extracellular domain and two C-terminal transmembrane domains, which are highly conserved and play a pivotal role in the proteins’ function (Figure 1) [1,2]. At the cellular level, PRRT2 is mainly detected in presynaptic terminals of glutamatergic neurons in the cerebral cortex, basal ganglia, and cerebellum. The protein is involved in Ca2+-mediated neurotransmitter release through the interaction with 25 ...

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Onchocerciasis-Associated Epilepsy: charting a path forward

The association between onchocerciasis and epilepsy was initially suggested by Casis-Sacre in Chiapas and Oaxaca in Mexico in 1938 [1]. In 1942, Balanzario Rosas, a collaborator of Casis-Sacre, described the “onchocerciasis epileptic syndrome” [2], characterised by epilepsy onset between 9 and 18 years of age, growth failure, neurodevelopmental impairment, a “simian face”, and physical deformities [2]. Later, the association between onchocerciasis and epilepsy was also observed in Bahr El Ghazal, South Sudan [3].

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The description of epileptic seizures in the classical opera

Epilepsy and epileptic seizures have received attention in literature [1–3] and sometimes even in painting [4–6]. However, with respect to music only very little is known about epilepsy or epileptic seizures as a topic of music. A link between music and epilepsy has been studied for musicogenic epilepsy including musical hallucinations [7,8], for ictal singing [9], and for music in the treatment of epilepsy [10,11]. A few classical composers have been diagnosed with epilepsy such as Hector Berlioz [12], Norbert ...

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Efficacy and safety of phenytoin and levetiracetam for acute symptomatic seizures in children with acute encephalitis syndrome: an open label, randomised controlled trial.

Acute encephalitis syndrome (AES) encompasses a diverse range of inflammatory brain parenchymal diseases that share similar clinical presentations.[1] This syndrome is characterized by the sudden onset of fever and altered sensorium, with or without seizures (excluding febrile seizures).[2] Globally, the reported incidence of encephalitis varies from 6.3 to 7.4 cases per 100,000 individuals across all age groups and 10.5 to 13.8 cases per 100,000 children.[3]

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In Response: Diagnosing functional seizures with a single video-EEG may miss epileptic seizures

We would like to thank Dr Finsterer from Austria for their keen interest in our work [1]. Our article titled “Medication use in patients with functional seizures from a public and a private hospital” [2] aimed to elucidate the pharmaceutical aspects of functional seizure (FS) management as well as to compare these management practices between a private and a public sector hospital.

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