Comprehensive Genetic, Clinical and Electrophysiological Studies of Familial Cortical Myoclonic Tremor with Epilepsy 1 Highlight the Role of Gene Configurations

Familial cortical myoclonic tremor with epilepsy (FCMTE) was first described in the 1990s in Japan [1,2] and is characterized by hereditary distal tremor-like myoclonus and infrequent generalized epileptic seizures. Autosomal dominant FCMTEs have been linked to 8q24 in Japanese and Chinese (FCMTE1,OMIM 601068), [3–5] 2q11.2 in Italian (FCMTE2 OMIM 607876) [6–9], 5p15.31-p15 in French and Dutch (FCMTE3 OMIM 613608) [10], and 3q26.32-3q28 in the Thai pedigree (FCMTE4 OMIM 615127) [11]. An autosomal recessive FCMTE family in Egypt has been mapped ...

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A Systematic Review of Adults with Dravet Syndrome

Dravet Syndrome (DS), previously known as “severe myoclonic epilepsy of infancy (SMEI)”, was first described by Charlotte Dravet in 1978. [1] DS is a rare, early-onset, treatment-resistant, epileptic encephalopathy that presents in the first or second year of life [2]. The reported incidence is between 1 in 15,000 to 1 in 41,000 [3–5]. In the late 1980s and early 1990s, variability was noticed amongst the myoclonic seizures, where they were absent in some patients. These patients were classified as having ...

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Comb-like EEG pattern in maple syrup urine disease: a case report

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder with neonatal-onset feeding difficulties, movement disorder, encephalopathy and seizures. If not treated in a timely manner, fatal progressive neurological deterioration and respiratory failure ensue [1,2]. This serious condition is caused by various degrees of deficiency in the branched-chain alpha-ketoacid dehydrogenase leading to the accumulation of the branched-chain amino acids, leucine, isoleucine, and valine and their toxic by-products in the brain.

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New understanding about the relationship among neurocysticercosis, seizures, and epilepsy

Epilepsy is one of the most common neurological disorders of the brain, and it is a major public health issue because it has neurological, cognitive, psychological, and social consequences, and contributes substantially to the world’s burden of disease, disability, and mortality [1,2]. Neurocysticercosis (NC) is a neglected parasitic disease of major public health importance because of its unacceptably high morbidity and mortality in endemic developing countries, where the sanitary infrastructure is deficient, as well as in non-endemic developed countries where ...

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PRE-ICTAL HEART RATE VARIABILITY ALTERATIONS IN FOCAL ONSET SEIZURES AND RESPONSE TO VAGUS NERVE STIMULATION

Vagus nerve stimulation (VNS) (VNS Therapy Systems, Livanova, Houston, Texas, USA) is indicated for the treatment of drug resistant epilepsy (DRE) patients who are unsuitable candidates for resective epilepsy surgery. Since 1997, more than 120.000 patients have been implanted worldwide including 30.000 children. The chances of a ≥ 50% seizure reduction range from 25-55% with a tendency for increased seizure control with longer treatment time (1,2). Yet one third of VNS patients do not respond to the treatment and the ...

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Seizures in Systemic Lupus Erythematosus: A scoping review

Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease, characterized by a fluctuating course (1). Worldwide, incidence and prevalence vary substantially in attribution to ethnicity and geographic exposure to diverse environmental factors. Updated estimates reported an annual incidence of 0.3-31.5 and prevalence of 3.2-517.5 cases per 100,000 individuals, with the highest numbers observed in childbearing years women, predominantly those of African-American, Asian, Hispanic and Aboriginal ancestry (2).

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The efficacy and tolerability of the auto-stimulation-VNS in children with Lennox-Gastaut syndrome

The first vagus nerve stimulator (VNS) was approved in the United States in 1997 for patients with drug resistant epilepsy (DRE). DRE is defined by the International League Against Epilepsy (ILAE) as persistent seizures within a 12-month period during which time an individual with epilepsy is treated with at least two properly chosen, properly dosed and well-tolerated anti-seizure medications (ASM) [1]. VNS therapy was reviewed by the American Academy of Neurology in 1997 [2], 1999 [3], and 2013 [4] and ...

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