Genotype-phenotype correlations in Polish patients with SCN8A-related epilepsy: A multicentre observational study.

Background: Voltage-gated sodium channels are involved in the initial depolarisation of neurones. As such, they play important roles in neurotransmission. Variants in the genes encoding these channels may lead to altered functionality and neurodevelopmental disorders.

Drug resistant epilepsy as the consequence of inadequate control of type 1 diabetes.

Hypoglycemic encephalopathy (HE) is a type of encephalopathy resulting from extremely low blood glucose level. Symptoms are not specific and can be misdiagnosed very often. It can occur during deep and/or prolonged hypoglycemia, which may be a result of inadequately controlled diabetes.

Evaluating the Credibility and Reliability of Online Information on Cannabidiol (CBD) for Epilepsy Treatment in Poland.

The interest in the potential therapeutic use of cannabis, especially cannabidiol (CBD), has increased significantly in recent years. On the Internet, users can find lots of articles devoted to its medical features such as reducing seizure activity in epilepsy. The aim of our work was to evaluate the information contained on the websites, including social media, in terms of the credibility and the reliability of current knowledge about the usage of products containing cannabidiol in epilepsy treatment.

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.

Epilepsy is one of the commonest diseases in children, characterized by extensive phenotypic and genetic heterogeneity. This study was conducted to determine the diagnostic utility and to identify novel clinical and therapeutic implications of genetic testing in pediatric patients with epilepsy. Large multigene panel and/or exome sequencing was performed in 127 unrelated Polish and Ukrainian patients with suspected monogenic epilepsy.

Comparison of knowledge and awareness of epilepsy between medical students of two universities in Poland.

Background: Epilepsy is one of the most common neurological disorders. As a chronic disease, associated with long-term treatment with antiseizure medication, it can have a negative impact on patients' quality of life. Moreover, patients are faced with a significant psychosocial burden associated with the stigma surrounding epilepsy.

Impairment of cognitive functions in children and adolescents with focal epilepsy.

Introduction: Frontal Lobe Epilepsy (FLE) and Temporal Lobe Epilepsy (TLE) are the two most frequent types of focal epilepsies and they are connected with difficulties in cognitive functioning. Despite multiple trials to systematize profile of cognitive functioning among children with epilepsy by researchers, the available data are ambiguous. The aim of our study was to compare the cognitive function of children upon diagnosis of TLE and FLE and during follow-up and to compare with a control group of healthy children.

Is Atopic Dermatitis Only a Skin Disease?

Atopic dermatitis (AD) is a chronic, pruritic, inflammatory dermatosis that imposes significant patient and population burdens. In addition to the cutaneous signs and symptoms, growing evidence suggests that AD is systemic in nature. Certain diseases can possibly co-occur with AD as a result of coincidental exposure to similar environmental factors.

Social Media as a Source of Knowledge about Gene Therapy for Spinal Muscular Atrophy.

Social media is one of the most common sources of medical information. We aimed to evaluate the information contained on websites, including social media and descriptions of fundraisers, in terms of the reliability of knowledge about SMA and gene therapy with onasemnogen abeparvovec. We used a set of available online links found using the Newspointtool.

Expanding the phenotype of DNAJC30-associated Leigh syndrome.

Leigh syndrome (LS) is a progressive neurodegenerative disease, characterized by extensive clinical, biochemical, and genetic heterogeneity. Recently, biallelic variants in DNAJC30 gene, encoding a protein crucial for the repair of mitochondrial complex I subunits, have been associated with Leber hereditary optic neuropathy and LS. It was suggested that clinical heterogeneity of DNAJC30-associated mitochondrial disease may be attributed to digenic inheritance.

Reflex seizures in rare monogenic epilepsies.

Reflex seizures (RSs) are epileptic events consistently induced by specific triggers. They occur in epilepsies of varied etiologies and are often accompanied by spontaneous seizures. The genetic background of RSs is heterogeneous and polygenic or multifactorial inheritance is suspected in the majority of cases.

Use of cannabidiol in the treatment of epilepsy.

Introduction: Cannabis sativa has been cultivated for human use for about 5,000 years, and has likewise been used in the treatment of epilepsy for thousands of years.

State Of The Art: Cannabidiol (CBD), which was isolated from cannabis sativa in 1940, has an anti-seizure effect and no psychoactive activity. Its effectiveness in reducing various types of seizures has been proven in animal seizure and epilepsy models.

COVID-19 pandemic influence on epilepsy course in pediatric patients.

Introduction: In 2020, Coronavirus Disease 2019 (COVID-19) was declared as a global pandemic. Self-reported stress, anxiety, and insomnia, which are believed to be common triggers for epilepsy, are more likely to occur. We aimed to establish the influence of COVID-19 pandemic itself on changes in the daily life routine related to pandemic on epilepsy course in pediatric patients.

Epilepsy awareness among school-aged students in Poland.

Objective: Epilepsy can be a well-controlled condition with only a slight impact on patients' life. Lack of knowledge within society contributes to children with epilepsy experiencing discrimination and hostility. The aim of this study was to evaluate the awareness of epilepsy and general views on people struggling with this disease among school-aged children.

Unstable Graves' disease as a precipitating factor for cerebral sinus venous thrombosis.

Not required for Clinical Vignette.

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.

Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers.

Materials And Methods: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted).

Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in Poland.

Aim Of The Study: This study aimed to evaluate the effects of nusinersen therapy in Polish children with SMA type 1.

Clinical Rationale Of Study: Spinal muscular atrophy (SMA) is a neuromuscular disorder that is characterised by the loss of motor neurons, progressive muscle weakness and atrophy, leading to increased disability and mortality. Nusinersen, an antisense oligonucleotide that promotes production of the functional survival motor neuron protein is approved for the treatment of SMA 5q in the European Union.

Peri-ictal headaches in the paediatric population - prospective study.

Introduction: The co-occurrence of headache and epilepsy is well-documented in the adult population. The aim of the prospective study was to analyse in the paediatric population the correlations between the types of peri-ictal headaches and types of seizures. Furthermore, an attempt was made to find trends in characteristic features of peri-ictal headaches.

Thermoregulation disorders of central origin - how to diagnose and treat.

Fever is a common symptom in the Intensive Care Unit. At least half of febrile episodes are caused by infection. Excluding infectious etiology and other non-infectious causes of fever, especially in patients with central nervous system (CNS) disorders, attention should be paid to disturbances of thermoregulatory centre.

Current treatment of convulsive status epilepticus - a therapeutic protocol and review.

The management of status epilepticus (SE) has changed in recent years. Substantial differences exist regarding the definition and time frame of a seizure, which has been operationally defined as lasting for 5 min. Not only have many new intravenous drugs, such as levetiracetam and lacosamide been introduced but other routes of administration, such as intranasal or buccal administration for midazolam, are also being developed.