Protein–ligand binding is a key biological process at the molecular level. The identification and characterization of small-molecule binding sites on therapeutically relevant proteins have tremendous implications for target evaluation and rational drug design. In this work, we used the recently developed level-set variational implicit-solvent model (VISM) with the Coulomb field approximation (C...

Protein kinase Cs (PKCs) are implicated in many forms of synaptic plasticity. However, the specific isoform(s) of PKC that underlie(s) these events are often not known. We have used Aplysia as a model system in order to investigate the isoform specificity of PKC actions due to the presence of fewer isoforms and a large number of documented physiological roles for PKC in synaptic plasticity in t...

The protein serine/threonine kinases which are highly expressed in the central nervous system (CNS) are severely affected by brain ischemia. Irrespective of substantial differences among the particular members of this group of kinases, their responses to ischemic stress show a lot of similarities. Initially they are switched on by facilitated interaction with their specific activators/second me...

Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis (ICCA) syndrome, and paroxysmal kinesigenic dyskinesia (PKD). Patients with ICCA have both BFIE and PKD and families with ICCA may contain individuals who exhibit all...

CNS involvement Encephalopathy Yes Yes [Lamperti 2012] Dystonia Yes Yes [Carrozza 2016] Spasticity Yes Yes [Carrozza 2016] Choreoathetosis Yes No [Ostergaard 2007] Migraine Yes No No Developmental delay Yes Yes [Carrozza 2016] Irritability Yes No [Lamperti 2012] Hypotonia Yes Yes [Carrozza 2016] Perturbed sleep/wake cycle No Yes No Dysarthria/anarthria Yes Yes [Lamperti 2012] Basal ganglia invo...

Cerebral palsy refers to a clinical syndrome of nonprogressive motor deficits (usually spastic weakness, uncommonly choreoathetosis, rarely ataxia) of central origin with onset from early infancy. In this issue of the Journal, Truwit et al describe the MR findings in 40 patients with the clinical diagnosis of cerebral palsy (1). The purposes of their retrospective study were to define the anato...

Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) is a mitochondrial multifunctional enzyme encoded by the HSD17B10 gene. Missense mutations in this gene result in HSD10 deficiency, whereas a silent mutation results in mental retardation, X-linked, syndromic 10 (MRXS10). Here we report a novel missense mutation found in the HSD17B10 gene, namely c.194T>C transition (rs104886492), brought about b...

PURPOSE OF REVIEW The aim of this article is to review new epilepsy syndromes, acquire a new understanding of older ones and emphasize the impact of this concept on basic research regarding aetiology and treatment. RECENT FINDINGS In addition to those included in the classification of the International League Against Epilepsy, new epilepsy syndromes comprise febrile seizures plus, benign fami...