HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.

Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. However, many studies show that neuromyotonia may remain undiagnosed, while axonopathy is the major clinical finding. The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.110G>C (p.Arg37Pro) pathogenic variant in homozygous or compound heterozygous state. In this study, we analyzed a peripheral neuropathy caused by pathogenic variants in the HINT1 gene and evaluated its contribution to the hereditary neuropathy structure. The studied group included 1596 non-related families diagnosed with hereditary motor and sensory neuropathy (HMSN). The results show that HINT1 gene pathogenic variants make a significant contribution to the hereditary neuropathy epidemiology in Russian patients. They account for at least 1.9% of all HMSN cases and 9% of axonopathy cases. The most common HINT1 pathogenic variant in Russian patients is the c.110G>C (p.Arg37Pro) substitution. Its allelic frequency is 0.2% (95% CI 0.19-0.21%), carrier frequency is 1 in 250 people in Russian Federation, and the estimated disease incidence is 1 in 234,000 individuals. It was determined that the cause of this pathogenic variant's prevalence is the founder effect.

[Surgery for intractable epilepsy in a patient with encephalocele of the temporal lobe: a case report]. / Khirurgicheskoe lechenie farmakorezistentnoi épilepsii u patsientki s éntsefalotsele visochnoi doli (klinicheskoe nabliudenie i obzor literatury).

We describe a case of surgical treatment of intractable temporal epilepsy in a female patient with congenital middle cranial fossa encephalocele. We present clinical-anamnestic and neuroimaging data as well as the microscopic and macroscopic pictures of encephalocele. We analyze outcomes of surgery for this pathology, which have been reported in the literature. To date, there have been a few articles on this subject in the domestic literature. The development of neuroimaging techniques and a growing number of verified encephalocele cases promote the widespread use of surgery for treatment of intractable epilepsy. Congenital encephalocele should be considered in the differential diagnosis of intractable temporal epilepsy, and, if verified, surgical treatment is the method of choice in most cases.