Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+)

Epilepsy with febrile seizures plus (EFS+) is an entity featured by febrile seizures plus (FS+) or epilepsy following FS+, including FS+, generalized epilepsy and febrile seizures plus (GEFS+), partial epilepsy and febrile seizures plus (PEFS+), FS+ and other intractable epilepsy [1-4]. The severe Dravet syndrome (DS) also occurs in EFS+ spectrum [1,5-6]. Many previous studies revealed that EFS+ was related to genetic cause [2,6-8]. A feature of EFS+ is genetic heterogeneity, i.e., patients with the same mutation have different disease ...

Seguir leyendo →
0

Challenges in the treatment of a chronic disease: A study of narratives of people with juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) is characterised by generalised onset seizures, often occurring soon after awakening, involving myoclonic seizures predominantly in the arms, and typically without disturbance of consciousness [1]. Myoclonic seizures in JME start to occur around puberty [1–3]. This type of epilepsy is possibly associated with genetic factors and, if correctly diagnosed and with appropriate treatment, can be well controlled [4–6]. Treatment for JME is long term, continuous and pharmacological [7].

Seguir leyendo →
0

Mild encephalopathy with reversible splenial lesion: description of nine cases and review of the literature

Mild encephalopathy/encephalitis with reversible splenial lesion (MERS) is a transient clinico-radiological syndrome characterized by non-specific encephalopathy and specific magnetic resonance imaging (MRI) pattern [1]. MRI shows an ovoid lesion in the mid-splenium of the corpus callosum (SCC), with high signal intensity on diffusion-weighted sequences (DWI), decreased signal intensity on apparent diffusion coefficient (ADC) maps, high signal intensity on FLAIR (fluid-attenuated inversion recovery), and no enhancement after gadolinium infusion [1].

Seguir leyendo →
0

Seizures associated with selective serotonin reuptake inhibitors: a case of pharmacologically induced epileptic myoclonia

Psychotropic drugs, especially antidepressants and antipsychotics, may reduce the seizure threshold and provoke epileptic seizures. In large investigations, seizure prevalence rates have been reported to range from ∼0.1 to ∼1.5% in patients treated with therapeutic doses of the most commonly used antidepressants and antipsychotics, while the incidence of the first unprovoked seizure in the general population is 0.02 to 0.06%. Based on the manufacturer’s information, the risk of seizures with selective serotonin reuptake inhibitors (SSRIs) is approximately 0.1% [1].

Seguir leyendo →
0

Correlation of Seizure Increase and COVID-19 Outbreak in Adult Patients with Epilepsy: Findings and Suggestions from a Nationwide Multi-centre Survey in China

The coronavirus disease 2019 (COVID-19) broke out in Wuhan, China, quickly sweeping the world, infecting more than 29 million people, and killing 937,391 by Sep 17th, 2020, according to reports from the WHO (https://www.who.int/zh/emergencies/diseases/novel-coronavirus-2019). To lower the risk of disease transmission, most countries took active and effective measures. The national security strategy for COVID-19 in China shifted to so-called wartime control measures from Jan 23rd to April 8th, putting cities on lockdown and affecting an estimated 760 million individuals [1].

Seguir leyendo →
0

Epilepsy in Patients with Familial Hemiplegic Migraine

Hemiplegic migraine (HM) is an infrequent and severe subtype of migraine in which the aura presents with motor symptoms such as temporary weakness, affecting one side of the body. Patients should have at least one affected first-degree or second-degree relative to be diagnosed as having familial hemiplegic migraine (FHM), otherwise, it is called sporadic HM [1]. Some patients with FHM experience other aura symptoms such as visual, sensory, and speech disturbances, and additional neurologic symptoms such as seizures [2–4].

Seguir leyendo →
0

Update on First Unprovoked Seizure in Children and Adults: A Narrative Review

A first seizure is a distressing and life-changing event for every patient and family. It is also a deeply concerning medical situation for physicians, as it usually occurs in a very dramatic manner, thus acute conditions must be suspected and ruled out. Historically, Gowers memorialized the phrase “seizures beget seizures” by altering brain functioning [1,2]. This statement supported the treatment of all first unprovoked seizures. It was not until the 1980s where new studies demonstrated that recurrence was not a ...

Seguir leyendo →
0

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: a multicenter European study.

The MADS box transcription enhancer factor 2 polypeptide C encoded by MEF2C (MIM *600662) is an immediate downstream transcriptional target and effector of endothelin signaling in the neural crest [1]. MEF2C encompasses up to 11 coding exons spanning approximately 100 kb on chromosome 5q14.3 and displays a tissue-specific expression, which is higher in the brain, heart, and skeletal muscle [2]. MEF2C haploinsufficiency resulting from heterozygous loss-of-function single nucleotide variants (SNVs) and 5q14.3 deletions (5q14.3 deletion syndrome) is associated with autosomal ...

Seguir leyendo →
0
Página 66 de 181 «...4050606465666768...»