Tuberous Sclerosis Complex in Chinese patients: phenotypic analysis and mutational screening of TSC1/TSC2 genes

Tuberous sclerosis complex (TSC) is a rare autosomal dominant inherited disorder characterized by the growths of benign hamartomatous tumors in multiple organ systems, primarily in the brain, eyes, heart, kidney, skin and lungs [1]. The prevalence of the disease was estimated to range from 1/6000 to 1/10 000 [2]. Inactivating mutations in either of two genes, TSC1 on chromosome 9q34 (MIM 191100) and TSC2 on chromosome 16p13 (MIM 191092), were identified as responsible for TSC [3,4]. The TSC1 gene contains ...

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Using scalp EEG and intracranial EEG signals for predicting epileptic seizures: review of available methodologies

Epilepsy is a common neurological disorder in which patients suffer seizures. Being able to predict the onset of a seizure before it occurs is important since this may facilitate the prevention of accidents and injury that can occur during seizures and additionally may help with pre-seizure delivery of medication or other interventions [1]. Electrical activity in the brain can be monitored using electroencephalogram (EEG) signals [2], which can be recorded from the scalp of patients, referred to as scalp EEG ...

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Prognostic factors and seizure outcome in Posterior Reversible Encephalopathy Syndrome (PRES) in children with hematological malignancies and bone marrow failure: a retrospective monocentric study

Posterior reversible encephalopathy syndrome (PRES), as defined by Hinchey et al. (1996), is a phenomenon of transient cerebral vasogenic edema occurring preferentially in posterior circulation [1]. Clinically, PRES is characterized by headaches, seizures, reduced consciousness, and visual and other focal neurological symptoms [2,3]. PRES is a clinicoradiological syndrome; a characteristic radiologic finding is vasogenic edema in the bilateral parietal-occipital lobes, which might be related to the lower concentrations of sympathetic innervation of the posterior intracranial arteries in comparison with other ...

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Autism, ADHD and parent-reported behavioural difficulties in young children with epilepsy

Ddifficulties with neurodevelopment and behaviour are frequently reported in children with epilpesy [1]. The difficulties experienced by the children are greater than that experienced by children with other non-neurological conditions [2] and have often a greater impact on Health Related Quality of Life (HRQOL) than seizures [3]. In school-aged children the prevalence of behavioural comorbidities have been described [1]. There is however, limited data on behavior in younger children with epilepsy [4] including the presence of Autism Spectrum Disorder (ASD) ...

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Epileptic encephalopathy and brain iron accumulation due to WDR45 mutation

We present the case of a 10-year-old Chinese boy with profound developmental delay, spastic quadriparesis, and intractable epilepsy with tonic and atypical absence seizures. He was first noted to have a delay at 9 months. When evaluated at 17 months he had diffusely decreased tone, was only able to roll over but could not sit, hold his head, crawl or communicate. His seizures started at age 2 and consisted of atypical absence (hypomotor) and generalized tonic seizures occasionally preceded by ...

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Electrical stimulation mapping in children

Electrical stimulation mapping is a longstanding practice that aids in identification and delineation of eloquent cortex. Initially used to expand our understanding of the typical human cortex, it now plays a significant role in mapping cortical function in individuals with atypical structural and functional tissue organization undergoing epilepsy surgery. This review discusses the unique challenges that arise in the functional testing of the immature cortex of a child and the parameters of stimulation that optimize accurate results in conventional open ...

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Rasmussen’s Encephalitis Presenting as Progressive Parietal Dysfunction Sans Seizures

Rasmussen’s encephalitis (RE) is a rare immune-mediated condition that classically presents in children with focal epilepsy or epilepsia partialis continua, progressive hemiplegia associated with cognitive deterioration and chronic unilateral cortical inflammation and hemi-atrophy [1]. Adults may have atypical manifestations including a prolonged prodromal phase, poorly defined residual period and slower progression [2]. Adults have more frequent occipital lobe involvement, bilateral hemispheric involvement or presentation as temporal lobe epilepsy or movement disorders [3].

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Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies

After Doose et al. [1] described epilepsy with myoclonic-atonic seizure (MAE), exploration of genetic causes has been ongoing [2]. Recent studies have identified pathogenic variants in SLC2A1 and SLC6A1 in 4% and 5% of MAE patients, respectively [3,4]. SLC2A1 has also been identified as responsible for up to 10% of early onset absence epilepsy (EOAE) patients [5–7]. Similarly, EOAE and childhood absence epilepsy have also been reported in patients with pathogenic variants in SLC6A1 [8]. Therefore, although the principal seizure ...

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A case of DRESS (drug reaction with eosinophilia and systemic symptoms) under treatment with eslicarbazepine

Adverse drug reactions (ADRs) are a well-known and often limiting problem in the pharmacological treatment of epilepsies. Cutaneous drug reactions – ranging from mild maculopapular exanthema (MPE) to severe Stevens-Johnson syndrome/ toxic epidermal necrolysis (SJS/TEN) are frequently observed in association with several antiepileptic drugs (AEDs) [1]. DRESS (drug reaction with eosinophilia and systemic symptoms) is a potentially life-threatening subtype that features hypereosinophilia, morbilliform skin eruptions, fever, facial edema, enlarged lymph nodes and other organ involvement and occurs with a latency ...

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Epilepsy in China: Factors influencing Marriage Status and fertility

Epilepsy is a chronic disorder characterized by recurrent seizures affecting various aspects of social life [1,2]. It is generally agreed that patients with epilepsy (PWE) are less likely to get married and bear offspring [3–6]. Lower marriage rates and reduced fertility within marriage may be associated with sociological and clinical characteristics of epilepsy [5,7,8]. PWE have lower rates of marriage when disease onset in their first decade of life [3,5]. Carran et al. found that patients with temporal lobe epilepsy ...

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