Clinical features of epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

Mitochondrial encephalomyopathy is a complex group of inherited disease with multisystem involvement that have mitochondrial respiratory chain dysfunction. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the most common well-defined mitochondrial encephalomyopathies, with a frequency of 1:6000 [1,2]. Although the most common mutation in MELAS is in the MT-TL1 gene encoding tRNALeu(UUR), known as adenine to guanine transition at nucleotide 3243 (m.3243A>G) [3,4], multiple other mutations in MELAS have been reported in mitochondrial DNA (mtDNA) and nuclear ...

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Changes in serum blood-brain barrier markers after bilateral tonic-clonic seizures.

Epilepsy affects approximately 50 million people worldwide [1]. Despite many years of research and a large number of antiseizure medication that inhibit neurotransmission and excessive stimulation of neurones, approximately 30% of patients fail to achieve seizure freedom [2]. Regardless of the aetiology of epilepsy, additional processes such as inflammation and related damage to the blood-brain barrier (BBB) integrity may affect the course of the disease and the response to treatment [3]. Clinical observations have demonstrated that adrenocortical hormones (ACTH) and ...

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A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation

Hemimegalencephaly (HME) is a congenital malformation of cortical development (MCD) commonly associated with early-onset refractory epilepsy. Early functional hemispherotomy is offered to eligible patients with the goal to provide seizure control and improve neurologic outcomes [1]. Mutations in the GATOR1 protein complex, including the nitrogen permease regulator 3-like protein (NPRL3) gene, cause hyperactivation of the mammalian target of rapamycin (mTOR) signaling pathway, and represent a potential therapeutic target (e.g., mTOR inhibitors) for HME-related epilepsy [2].

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Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy

Idiopathic generalized epilepsies (IGEs) are a common group of genetic generalized epilepsies, which account for 15% to 20% of all epilepsies [14]. It is characterized by generalized epileptic seizures, including absence, myoclonic, generalized tonic-clonic, and myoclonic-tonic-clonic seizures, generalized spike/polyspike-slow waves on EEG, and good prognosis with normal neurodevelopment. Generally, the IGEs comprise four syndromes, including childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (GTCA) [12].

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Telemedicine for Individuals with epilepsy: a comprehensive guide by ILAE Telemedicine Task Force

Epilepsy is one of the most common chronic neurological disorders, with a prevalence of at least 7 to 9 per 1,000 people and an incidence of 67 per 100,000 people per year worldwide [1–3]. The global prevalence of epilepsy is highly variable in different regions of the world, implying that biological, environmental, and health resource-related factors contribute to this observation [4]. In addition, epilepsy is often associated with many somatic and psychiatric comorbidities, further impairing quality of life [5].

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Development of an Instrument for Measuring the Work Functioning of Persons with Epilepsy in Clinical Settings

Epilepsy is a very common health condition defined as a neurological disease and characterized mainly by the recurrence of epileptic seizures [1]. There are 50 million persons with epilepsy (PwE) in the world [2], of these 70% can control seizures using medicines [3]. However, 75% of PwE who live in low- and middle-income countries (LMICs) and more than half who live in Latin America and the Caribbean do not have access to appropriate treatments [3, 4]. Furthermore, epilepsy is responsible ...

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Epilepsy with myoclonic absence presenting with unilateral jerks: A case of 2q13 microdeletion syndrome

Epilepsy with myoclonic absence (EMA), which was originally depicted by Tassinari in 1969 and 1971, is now classified by the International League Against Epilepsy (ILAE) as a genetic generalised epilepsy syndrome of childhood. EMA is characterised by rhythmic jerks and tonic contractions with impaired consciousness accompanied by synchronous and symmetric 3 Hz spike-and-wave discharges. It is generally bilateral, but it must be differentiated from focal impaired awareness motor seizures when it is unilateral [1].

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Caregivers’ Experiences in the Management of Children with Epilepsy: A Systematic Synthesis of Qualitative Studies

Epilepsy is a chronic disease of the nervous system, and childhood is the prime age for its onset. In children, the incidence of epilepsy is the highest in the first year of life but decreases to adult levels by the age of 10 years [1]. Due to limited awareness among children, adults in the family generally look after the child after discharge from hospital. Primary responsibility for care generally falls to family members; that is, the informal caregiver. However, informal ...

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