A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in either condition.

[Vestibular schwannomas: Surgical treatment of 67 cases in 10 years].

Introduction: Vestibular Schwannomas (VS) are benign intracranial tumors, for which their current management is a matter of debate, although microsurgical treatment remains the mode of choice in the majority of cases.

Objective: To describe the surgical outcome of patients operated on for a VS in a Chilean Public Hospital.

Material And Method: A series of 67 patients treated surgically between 2002 and 2012, in the Institute of Neurosurgery Asenjo is presented.

Antagonistic effects of TrkB and p75(NTR) on NMDA receptor currents in post-synaptic densities transplanted into Xenopus oocytes.

Brain-derived neurotrophic factor (BDNF) and its receptor TrkB are essential regulators of synaptic function in the adult CNS. A TrkB-mediated effect at excitatory synapses is enhancement of NMDA receptor (NMDA-R)-mediated currents. Recently, opposing effects of TrkB and the pan-neurotrophin receptor p75(NTR) on long-term synaptic depression and long-term potentiation have been reported in the hippocampus.

Electrophysiology and plasticity in isolated postsynaptic densities.

The organization and regulation of excitatory synapses in the mammalian CNS entails complex molecular and cellular processes. In the postsynaptic membrane, scaffolding proteins bring together glutamate receptors with multiple regulatory proteins involved in signal transduction. This gives rise to an elaborate postsynaptic structure known as the postsynaptic density (PSD).

Protein kinase CK2 in postsynaptic densities: phosphorylation of PSD-95/SAP90 and NMDA receptor regulation.

Protein kinase CK2 (CK2) is highly expressed in rat forebrain where its function is not well understood. Subcellular distribution studies showed that the catalytic subunit of CK2 (CK2alpha) was enriched in postsynaptic densities (PSDs) by 68%. We studied the putative role of CK2 activity on N-methyl-D-aspartate receptor (NMDAR) function using isolated, patch-clamped PSDs in the presence of 2 mM extracellular Mg(2+).

SH oxidation coordinates subunits of rat brain ryanodine receptor channels activated by calcium and ATP.

We have reported that ryanodine receptor (RyR) channels display three different responses to cytoplasmic free Ca2+ concentration ([Ca2+]) depending on their redox state (Marengo JJ, Hidalgo C, and Bull R. Biophys J 74: 1263-1277, 1998), with low, moderate, and high maximal fractional open times (Po). Activation by ATP of single RyR channels from rat brain cortex was tested in planar lipid bilayers with 10 or 0.

Epilepsy-induced changes in signaling systems of human and rat postsynaptic densities.

Purpose: To study seizure-induced changes in signaling proteins present in postsynaptic densities (PSDs) isolated from human epileptic neocortex and from rat cortex in which seizures were induced by injection of kainic acid.

Methods: We performed Western blot analysis of signaling proteins in PSDs isolated from cortical tissue.

Results: Seizures induce a strong upregulation of TrkB, the receptor for brain-derived neurotrophic factor (BDNF), whereas components of the N-methyl-d-aspartate (NMDA)-receptor complex are downregulated in both human and rat PSDs.