Intracellular calcium homeostasis and its dysregulation underlying epileptic seizures

Epilepsy is characterized by abnormal excessive synchronous discharge of brain neurons and remains one of the most common neurological disorders [1,2]. It is estimated that over 50 million people suffer from enduring predisposition of the brain to generate epileptic seizures [3,4], and approximately one-third of the patients are resistant to existing drugs [5]. Failure of seizure control usually causes cognitive and psychological impairment and can impose social and economic burdens [6]. Investigations of the mechanisms of epilepsy are urgently needed ...

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Sleep Quality and Circadian Rhythm Profile of Persons with Juvenile Myoclonic Epilepsy in a Tertiary Epilepsy Center: A Case-Control Study

Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized syndrome with onset during adolescence and early adulthood. Persons with JME have myoclonic seizures (100% of cases), myoclonic-tonic-clonic seizures or generalized tonic-clonic seizures (80-90% of cases), and absence seizures (30% of cases). Photosensitivity occurs in 30 to 40% of persons with JME [1]. JME is pharmacoresponsive epilepsy, but the recurrence rate is 80-90% [1].

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Characteristics associated with drug resistant epilepsy in children up to 36 months old with Congenital Zika Syndrome

In November 2015, the Brazilian Ministry of Health declared the Zika virus (ZIKV) outbreak a public health emergency following an increase in microcephaly cases, especially in northeastern Brazil. [1] Since the beginning of reports of children with Congenital Zika Syndrome (CZS), epileptic seizures are the main clinical complication in the first 4 months of life [2]; they tend to be early [3,4] and refractory. [4]

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EEG-Findings during long-term treatment with Everolimus in TSC-associated and therapy-resistant epilepsies in children

Tuberous Sclerosis Complex (TSC) is a genetic disease resulting in hyperactivity of the mammalian target of rapamycin complex 1. This leads to the formation of benign tumors in the kidney, liver, heart, retina, lungs, brain and skin; epilepsy occurs in up to 90% of TSC patients and is often refractory to treatment with antiseizure medication (ASM). EEG features in children with TSC and infantile spasms were first published in 1964 [1], a detailed description of infantile spasms was given in ...

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Focal motor seizure as a presenting symptom in anti-mGluR5 encephalitis: A case report

Antibodies targeting metabotropic glutamate receptor 5 (mGluR5) were first identified in 2011 in 2 patients with Ophelia syndrome associated with Hodgkin lymphoma (HL) [1]. The clinical spectrum of anti-mGluR5 encephalitis is expanding from psychosis to cognitive impairment, seizures, and movement disorders as the number of reported patients increases [2, 3]. Of a total of 12 patients diagnosed with anti-mGluR5 encephalitis from publications, half developed seizures at different periods of disease progression, but none manifested as an isolated symptom of seizures ...

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Lennox Gastaut Syndrome – A strategic shift in diagnosis over time?

Lennox Gastaut Syndrome (LGS) is an epilepsy syndrome presenting in childhood, classically characterised by a triad of cognitive or developmental impairment, multiple seizure types and EEG features of slow-spike waves (SWW), with or without paroxysmal fast activity (PFA) in sleep. There is increasing scientific opinion in favour of a less rigid approach to LGS diagnosis and this clinical audit attempts to shed light on how the LGS diagnostic criteria used may have changed over time, in a large tertiary paediatric ...

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Psychiatric symptoms predict drug-resistant epilepsy in newly treated patients.

Epilepsy is one of the most common serious neurological disorders, affecting over 70 million people worldwide (1). Approximately 30% to 40% of patients with epilepsy (PWE) develop drug-resistant epilepsy (DRE) despite receiving appropriate anti-seizure medication (ASM) (2, 3). It is well documented that drug-resistant epilepsy is associated with an increased risk of mortality, injuries, psychosocial dysfunction, and poor quality of life (4–7). Thus, identifying clinically useful predictors of the occurrence of DRE in newly treated patients would have significant clinical ...

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Familial posterior predominant subcortical band heterotopia caused by a CEP85L missense mutation

Lissencephaly comprises a spectrum of cortical malformations caused by disruption of neuronal migration. The lissencephaly spectrum includes agyria defined as cortex lacking gyri with sulci >3cm apart, pachygyria defined as abnormally broad gyri with sulci 1.5-3cm apart, and subcortical band heterotopia (SBH) characterised by a band of heterotopic neurons beneath the cortex, separated by a thin layer of white matter.[1] Lissencephaly has heterogeneous genetic aetiologies, including both single gene mutations (for example, LIS1 and DCX variants) and locus deletions (for ...

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Narrative review of Brivaracetam for genetic generalized epilepsies

The licensed treatment options for genetic generalized epilepsies are limited although many patients with these conditions require chronic pharmacological management with antiseizure medications and there are no curative surgical treatment options. Brivaracetam is being studied as a new therapeutic option for genetic generalized epilepsies. Method: In order to carry out a narrative review on the efficacy and safety of brivaracetam in genetic generalized epilepsies, a literature research was performed in Pubmed, EMBASE, Cochrane and Clinical Trials.gov databases.

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Assessment of Trabecular Bone Score: a 7-year follow-up study in institutionalized adults with refractory epilepsy and intellectual disability

Osteoporosis is defined as “a systemic skeletal disorder characterized by a low bone mass and microarchitectural deterioration of bone tissue, with a subsequent increase in bone fragility and susceptibility to fracture” [1]. The current gold standard for diagnosing osteoporosis is the assessment of bone mineral density (BMD) by using a dual-energy x-ray absorptiometry scan (DXA). In 2019, the prevalence of osteoporosis in Europe was estimated at 32.0 million people; 5.6% of the total population [2].

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