Search results for "BFIE"
showing 4 items of 4 documents
The relationship between navigation abilities and mental disorders: Poster
2021
This study examined the relationship between aspects of navigational ability and behavioral traits associated with various mental disorders. We propose that navigational ability may utilize the same brain circuitry that has dysfunction in certain mental disorders and may be a beneficial early marker for these disorders. This study was inspired by the Research Domain Criteria (RDoC), a framework outlined by NIMH to study the basic dimensions of functioning that span the range of behavior from normal to abnormal. For example, we hypothesized that spatial perspective taking, which is important for navigation, could be associated with social perspective taking in disorders such as autism spectr…
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?
2020
Abstract Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated gene detected in families with BFIE, other mutations in KCNQ2, SCN2A, and GABRA6 genes have also been described. To date, KCNQ3 mutations have been detected in only four patients with BFIE. Here, we describe the clinical pattern and course of an additional individual with BFIE associated with a novel missense heterozygous KCNQ3 c.1850G>C variant inherited by his unaffected father. The incidence of KCNQ3 mutations among BFIE patients…
Spatial Cognition 2020/1: Book of abstracts : August 2-4, 2021, University of Latvia
2021
Spatial Cognition is concerned with the acquisition, development, representation, organization, and use of knowledge about spatial objects in real, virtual or hybrid environments and processed by human or artificial agents. Spatial Cognition includes research from different fields insofar as they are concerned with cognitive agents and space, such as cognitive and developmental psychology, linguistics, computer science, geography, cartography, philosophy, neuroscience, and education. Research issues in the field range from the investigation of human spatial cognition to mobile robot navigation, including topics such as wayfinding, spatial planning, spatial learning, internal and external re…