Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy

The principal source of energy for mammalian brains is glucose [1]. Neurons are among the cells that consume the most energy and rely on a steady supply of glucose [2]. Despite accounting for only 2% of total body weight, the human brain consumes 20% of all glucose-derived energy, making it the leading glucose consumer [3]. Glucose metabolism is indirectly involved in ATP generation which provides energy that is essential for fundamental neuronal processes [4]. Furthermore, glucose metabolism produces energy (ATP) ...

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Seizure response to carbamazepine in a patient with CACNA1A-associated epilepsy: a case report.

The CACNA1A gene encodes the pore-forming α1 subunit of voltage-gated P/Q type Ca2+ channel (Cav2.1), which mediates the intracellular entry of Ca2+ ions. It is located in the chromosome locus 19p13.13, and is predominantly expressed in the central nervous system.[1] CACNA1A gene mutations are a well-known cause of familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6.[2] CACNA1A mutations can be also associated with several epileptic phenotypes including typical absence seizures, focal seizures, and epileptic encephalopathies.

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Big Data – Big Trouble: The two faces of publishing results from big data studies based on cohorts with poor clinical definition.

We have noticed an increasing trend towards epidemiological studies analyzing big data from health registers or insurance companies. The study groups report linkages between epilepsy, its treatment, and comorbidities, i.e. that epilepsy is related to dementia, that antiseizure medication is related to dementia, that mortality rates in epilepsy are rising, or that intrauterine exposure to folate or antiseizure medication are connected to later cancer or psychiatric illness [1–6]. Unfortunately, the media coverage of these often excellently published studies with simple, ...

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A child with febrile and atypical absence seizures caused by a NLGN2 variant

Excitatory and inhibitory (E/I) network dysregulation significantly contributes to the pathogenesis of epilepsy. Neuroligins are postsynaptic cell adhesion molecules that play important roles in maintaining E/I synaptic signaling. The NLGN2 gene, located on 17p13.1, encodes a cell adhesion molecule that is expressed only in the postsynaptic membranes of inhibitory synapses, with high expression in the brain. While NLGN2 variants have been linked to schizophrenia, autism, and developmental delay [1], there are no reports of abnormal NLGN2 variants in patients with ...

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Outcome after Conservative or Surgical Treatment for New-Onset Epilepsy in Children with Cerebral Cavernous Malformation

Up to one-fourth of all cerebral cavernous malformations (CCM) affect the pediatric population [1–3]. Such lesions are a major cause of spontaneous intracerebral hemorrhage and may result in headaches, seizures, or focal neurological deficits [4]. A substantial number of lesions have a benign clinical course. However, some children suffer from CCM-related epileptic seizures (CRE), which are the most common trait of CCM disease. Pediatric CRE can lead to high morbidity, with particularly dreadful consequences in children and their development, given ...

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