Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

A young boy with multifocal epilepsy with infantile spasms and hypsarrhythmia with minimal organic lesions of brain structures underwent DNA diagnosis using whole-exome sequencing. A heterozygous amino-acid substitution p.L519R in a PHACTR1 gene was identified.

[Human adaptive phenotypes in physiology and medicine].

The study of pathological and physiological features associated with genetic syndromes has gained increasing momentum over the past two decades. In this paper, the definition of adaptive phenotypes is presented and the complexities and obstacles to progress in this field are summarized. This is a problem of general biology and is related to genetic specificity of every organism.

[Genetic aspects of congenital pathology of the larynx and trachea].

Medical-genetic examination covered 24 families of patients with congenital defects of the larynx and trachea. These developmental defects can be attributed to multiple unestablished defects (66.7%) or can be part of some congenital-hereditary syndromes (25%) such as chromosomal, genetic, teratogenic, of unknown etiology.

EEG mapping in children with different dermatoglyphic patterns.

This study is an attempt to analyze the relationships between EEG and dermatoglyphic patterns (DP) in 6-8 years girls. EEG-mapping was carried out in 80 healthy girls with different types of DP in 6 frequency band: delta, theta, alpha-1, alpha-2, alpha-3 and beta. Certain connection of the palmar and finger patterns with the EEG characteristics was revealed.