Seizure

The widespread applications of next-generation sequencing technologies have accelerated the discovery of genes associated with epilepsy. Genetic factors are believed to be the major contributors to the cause of epilepsy in up to 80% of people with epilepsy [1–3]. In 2017, we summarized 977 genes that are associated with epilepsy based on clinical-genetic evidence [4]. Over the past six years, a great number of novel epilepsy-associated genes have been reported, which has led to encouraging progress in the field of ...

Highly purified cannabidiol (CBD) with a known and constant composition has proven to be an effective and safe therapeutic alternative for the treatment of drug resistant epilepsy [1,2]. The results of several randomized controlled clinical trials have allowed it to be approved by various drug regulatory entities as adjuvant therapy in patients older than 2 years with drug resistant epilepsy associated with Lennox-Gastaut syndrome, Dravet syndrome or Tuberous Sclerosis Complex [3–7]. However, the mechanism of action of CBD in epilepsy, ...

Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by pathogenic heterozygous variants in the mechanistic target of rapamycin (mTOR) pathway regulators, TSC1 or TSC2 [1]. Disinhibition of mTOR leads to the growth of benign hamartomas in several organs. Epilepsy is the most prevalent neurological manifestation in patients with TSC, occurring in approximately 90% of patients and 80% <2 years of age, with about 40% presenting with infantile spasms [2]. Drug-resistant epilepsy occurs in two-thirds of patients with TSC ...

Epilepsy is a prevalent condition characterized by chronic, recurrent, and unprovoked seizures, contributing significantly to morbidity [1]. A significant number of individuals with epilepsy continue to experience insufficient control of their seizures, even when utilizing combinations of anti-seizure medications (ASM) [2]. Uncontrolled seizures may lead to elevated mortality rates, arrested development, and cognitive impairment. Surgical treatment is an option for drug-resistant epilepsy (DRE), albeit limited by the invasive nature and potential complications [3,4].

Temporal lobe epilepsy (TLE) is the most common type of focal epilepsy in adults [1]. Patients with TLE tend to show a poorer response to treatment compared with other types of epilepsy [2], and TLE is often associated with drug-resistant seizures [1,3,4].

Emergency and unplanned epilepsy-related attendances are associated with an increased risk of subsequent death within 6 months. Although further work is required to provide a definitive explanation to account for these findings, in the interim it would seem reasonable that services are designed to ensure timely access and provide support at a time of greatest risk.We aim to determine the frequency of patients with epilepsy (PWE) accessing specialist neurology services following an epilepsy-related admission/unscheduled care episode.

Epilepsy is one of the most common neurological disorders across all age groups. [1] While anti-seizure medication (ASM) is the first line treatment, only two thirds of patients achieve seizure freedom. [2] Although many new ASM have been developed over the past decades, the rate of patients with drug-resistant epilepsy (DRE) has not changed. [2] DRE can have adverse effects on cognition and neurodevelopment. [3,4] Patients with DRE have an increased risk of sudden unexpected death in epilepsy (SUDEP) and ...

With the advent of next-generation sequencing, the genetic landscape of childhood epilepsy is continuously evolving and currently comprises a wide range of genes, many of which are associated with the mechanistic target of rapamycin (mTOR) pathway. Recently, the relationship between hyperactivation of the mTOR signalling pathway and development of epilepsy has been widely recognized [1–3]. GTPase-activating protein (GAP) activity towards the RAG 1 (GATOR1) complex, a super-repressor of mTORC1, inactivates Rag proteins by altering their nucleotide loading status (GTP or ...

Febrile infection-related epilepsy syndrome (FIRES) is currently classified by the International League Against Epilepsy (ILAE) as an epilepsy syndrome with progressive neurological deterioration beginning in childhood [1]. FIRES has a highly characteristic multiphasic course (Fig. 1).

Infantile epileptic spasms syndrome (IESS), also known as West syndrome (WS), is one of the most common forms of epileptic encephalopathies occurring in infancy. IESS is characterized by epileptic spasms typically occurring in clusters, hypsarrhythmia on electroencephalogram (EEG), and developmental stagnation or regression. Structural brain abnormalities are occasionally evident, including acquired or congenital lesions, and genetic etiologies are also common, including trisomy 21, and mutations in ARX, CDKL5, STXBP1, IQSEC2, TSC1, and TSC2 [1].