Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations.

gene is a recently identified gene located in 15q12 chromosome and encodes for gamma-aminobutyric acid (GABA) receptor subunit beta-3 protein, which is linked to the GABAA receptor. The gene is believed to share a role in inhibitory GABAergic synapses, GABA iron-gated channel function, and possible cellular response to histamine. The β3 subunit is expressed in cerebral grey matter, thalami, hippocampi, and cerebellum, among other structures.

Pediatric anti-NMDA (N-methyl D-aspartate) receptor encephalitis.

Background: We report the clinical features and course of pediatric patients presenting with anti-N-methyl D-aspartate receptor (NMDA-R) encephalitis.

Methods: Single-center 4-year observational study of pediatric encephalitis associated with NMDA-R antibodies in the serum and/or the cerebrospinal fluid.

Results: Three girls with anti-NMDA-R encephalitis were identified.

Construct and concurrent validity of the Dementia Rating Scale-2 Alternate Form.

The Dementia Rating Scale-2: Alternate Form (DRS-2: AF) was developed by Schmidt (2004) for use in serial neuropsychological assessments with the original DRS-2 (Jurica, Leitten, & Mattis, 2001). Results from two preliminary validation studies of the DRS-2: AF are presented here. In Study 1, the DRS-2: AF and four additional neuropsychological measures were administered to 49 healthy, community-dwelling participants without dementia; convergent and discriminant correlational analyses provide evidence for the construct validity of four DRS-2: AF subscales (Attention, Initiation/ Perseveration, Conceptualization, Memory).

Arterial transit time imaging with flow encoding arterial spin tagging (FEAST).

Arterial spin labeling (ASL) perfusion imaging provides direct and absolute measurement of cerebral blood flow (CBF). Arterial transit time is a related physiological parameter reflecting the duration for the labeled spins to reach the brain region of interest. Most of the existing ASL approaches to assess arterial transit time rely on multiple measurements at various postlabeling delay times, and thus are vulnerable to motion artifact as well as computational error.