Epilepsy and ultra-structural heart changes: the role of catecholaminergic toxicity and myocardial fibrosis. What can we learn from cardiology?

In 1628, Sir William Harvey, the famous English physician, stated that “For every affection of the mind that is attended with either pain or pleasure, hope or fear, is the cause of an agitation whose influence extends to the heart” [1]. In this article, we explore the interaction of brain and heart in patients with epilepsy, focusing on new insights into possible pathways from epilepsy, catecholaminergic toxicity, subtle cardiac changes and sudden death. Translational lessons from cardiac models of disease ...

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Accuracy of expert predictions of seizure freedom after epilepsy surgery

Epilepsy surgery is an efficacious elective treatment for pharmacoresistant epilepsies [1,2]. Following comprehensive presurgical evaluation [3], patients are counseled with regard to the chances and risks of surgical treatment. This is essential for informed decision making [1]. At the University of Bonn Epilepsy Center which is conducting up to120 epilepsy surgeries per year since 1988 [4], a team of trained epileptologists explicitly estimates the individual chances of getting seizure free after surgery which is communicated to the patient (e.g.

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Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review

SLC25A22 deficiency is a rare cause of familial and sporadic early onset developmental and epileptic encephalopathy (DEE) and epilepsy of infancy with migrating focal seizures (EIMFS) [1,2]. Patients typically present with refractory seizures, hypotonia, visual inattention with post-retinal dysfunction, microcephaly, neuroimaging abnormalities, burst-suppression pattern on EEG [1,2]. SLC25A22 is an important mitochondrial glutamate transporter in the liver and in the brain, it is highly expressed in astrocytes.

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Outcomes of low-dose valproic acid treatment in patients with juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) is characterized by the presence of bilateral myoclonic, generalized myoclonic, tonic–clonic, and (less often) absence seizures. Its prevalence comprises 5–10% of all epilepsies and 18% of genetic (idiopathic) generalized epilepsies [1]. Clinical symptoms occur between 6 and 22 years of age, most frequently during adolescence: age at onset is 13–16 years in half of affected patients [2]. Myoclonic seizures primarily occur between 12 and 18 years of age; these consist of generalized tonic–clonic (GTC) seizures in ...

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The onset of pediatric refractory status epilepticus is not distributed uniformly during the day

Status epilepticus (SE) is one of the most common neurological emergencies in children, with an incidence of 17-23/100,000 per year [1–4]. Pediatric SE is associated with a short-term mortality of 0-3% [1,4–8] which is as high as 20-40% [9] in refractory SE (rSE). One of the most disabling features of epilepsy and SE is the apparently unpredictable timing of seizure occurrence [10]. However, seizures, and presumably SE, follow day and multiday rhythms [10–13].

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Efficacy of phenobarbital and sodium valproate in treating convulsive epilepsy in northeast China

Epilepsy is a common disease of the nervous system. Epidemiological data from the International League Against Epilepsy (ILAE) showed that the prevalence of epilepsy is 5.8‰ in developed countries and 15.4‰ in developing countries. The prevalence of active epilepsy is 4.9‰in developed countries and 12.7‰ in developing countries [1]. More than 85% of epilepsy cases occur in 49% of the world’s population that resides in low- and middle-income countries [1,2]. A meta-analysis showed that the prevalence of epilepsy in China ...

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Two Chinese siblings with two novel KCTD7 mutations have dystonia or seizures and epileptic discharge on electroencephalograms

Many potassium channel gene mutations are reportedly associated with genetic forms of epilepsy, such as progressive myoclonic epilepsy (PME). In 2007, a homozygous mutation of the gene encoding potassium channel tetramerization domain-containing protein 7 (KCTD7) was first reported in three siblings from a consanguineous family with PME with autosomal recessive inheritance1. PME associated with KCTD7 mutations has been reported in 42 patients from 33 families to date2,3. Here, we describe one Chinese girl presenting with paroxysmal non-epileptic myoclonus that was ...

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Status epilepticus in Hashimoto’s encephalopathy

Hashimoto’s encephalopathy (HE), also known as steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT), is a rare disorder with an estimated prevalence of 2:100.000, a reported woman to men ratio of 4:1[1], and a relatively greater frequency in the adult population [2].

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