Seizure

Tuberous Sclerosis Complex (TSC) is a genetic disease resulting in hyperactivity of the mammalian target of rapamycin complex 1. This leads to the formation of benign tumors in the kidney, liver, heart, retina, lungs, brain and skin; epilepsy occurs in up to 90% of TSC patients and is often refractory to treatment with antiseizure medication (ASM). EEG features in children with TSC and infantile spasms were first published in 1964 [1], a detailed description of infantile spasms was given in ...

Antibodies targeting metabotropic glutamate receptor 5 (mGluR5) were first identified in 2011 in 2 patients with Ophelia syndrome associated with Hodgkin lymphoma (HL) [1]. The clinical spectrum of anti-mGluR5 encephalitis is expanding from psychosis to cognitive impairment, seizures, and movement disorders as the number of reported patients increases [2, 3]. Of a total of 12 patients diagnosed with anti-mGluR5 encephalitis from publications, half developed seizures at different periods of disease progression, but none manifested as an isolated symptom of seizures ...

Lennox Gastaut Syndrome (LGS) is an epilepsy syndrome presenting in childhood, classically characterised by a triad of cognitive or developmental impairment, multiple seizure types and EEG features of slow-spike waves (SWW), with or without paroxysmal fast activity (PFA) in sleep. There is increasing scientific opinion in favour of a less rigid approach to LGS diagnosis and this clinical audit attempts to shed light on how the LGS diagnostic criteria used may have changed over time, in a large tertiary paediatric ...

Epilepsy is one of the most common serious neurological disorders, affecting over 70 million people worldwide (1). Approximately 30% to 40% of patients with epilepsy (PWE) develop drug-resistant epilepsy (DRE) despite receiving appropriate anti-seizure medication (ASM) (2, 3). It is well documented that drug-resistant epilepsy is associated with an increased risk of mortality, injuries, psychosocial dysfunction, and poor quality of life (4–7). Thus, identifying clinically useful predictors of the occurrence of DRE in newly treated patients would have significant clinical ...

Lissencephaly comprises a spectrum of cortical malformations caused by disruption of neuronal migration. The lissencephaly spectrum includes agyria defined as cortex lacking gyri with sulci >3cm apart, pachygyria defined as abnormally broad gyri with sulci 1.5-3cm apart, and subcortical band heterotopia (SBH) characterised by a band of heterotopic neurons beneath the cortex, separated by a thin layer of white matter.[1] Lissencephaly has heterogeneous genetic aetiologies, including both single gene mutations (for example, LIS1 and DCX variants) and locus deletions (for ...

The licensed treatment options for genetic generalized epilepsies are limited although many patients with these conditions require chronic pharmacological management with antiseizure medications and there are no curative surgical treatment options. Brivaracetam is being studied as a new therapeutic option for genetic generalized epilepsies. Method: In order to carry out a narrative review on the efficacy and safety of brivaracetam in genetic generalized epilepsies, a literature research was performed in Pubmed, EMBASE, Cochrane and Clinical Trials.gov databases.

Osteoporosis is defined as “a systemic skeletal disorder characterized by a low bone mass and microarchitectural deterioration of bone tissue, with a subsequent increase in bone fragility and susceptibility to fracture” [1]. The current gold standard for diagnosing osteoporosis is the assessment of bone mineral density (BMD) by using a dual-energy x-ray absorptiometry scan (DXA). In 2019, the prevalence of osteoporosis in Europe was estimated at 32.0 million people; 5.6% of the total population [2].

Epilepsy is among the most frequent neurological disorders in children. Although two-thirds of children with epilepsy (CWE) will attain seizure freedom for more than 3-5 years, nearly 25% eventually develop drug-resistant epilepsy (DRE).[1] Children with DRE are at risk for several comorbidities, including intellectual disability and attention-deficit hyperactivity disorder, and complications, including drug-related adverse effects, injuries, and sudden unexpected death in epilepsy (SUDEP).

Tuberous sclerosis complex (TSC), a rare genetic disease, involves excessive cell growth, which leads to benign tumors in several organs, including the central nervous system [1]. These cerebral hamartomas or tubers are potential substrates for neuronal hyperexcitability that induces epileptic seizures. Approximately 70-90% of patients with TSC develop epilepsy—often difficult to control with drug treatment [2–4]. Pharmaco-resistant epilepsy is twice as common as in the general epilepsy population [5].

Childhood epilepsy is a common neurological disorder of variable aetiology affecting approximately 0.5-1% of children[1]. For caregivers, management of their child’s epilepsy not only involves managing seizures within the context of home, education and leisure activities, but also administering medication, seeking clinical intervention when appropriate, and often negotiating cognitive, mental health and neurodevelopmental comorbidities[2–5]. Depending on clinical and family circumstances, caring for a child with epilepsy can involve detrimental changes to carer employment, finances, sleep and mental health[3-4, 6-7].