The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.

OBJECTIVE: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. Only a few cases have been reported, and the epilepsy phenotype is not fully elucidated. METHODS: A retrospective chart review of two siblings with ST3GAL3-related DEE was completed. In addition, we reviewed all published cases of ST3GAL3-related congenital disorder of glycosylation. RESULTS: Two brothers presented with global developmental delay, motor and language impairment, hypotonia, and childhood-onset seizures. Seizures started between 2.5 and 5 years and had tonic components. Both siblings had prolonged periods of seizure freedom on carbamazepine. Tremor was present in the younger sibling. Whole exome sequencing revealed two novel pathogenic variants in ST3GAL3, (a) c.302del, p.Phe102Serfs*34 and (b) c.781C>T, p.Arg261*, which were inherited in trans. Magnetic resonance imaging showed T2 hyperintensities and restricted diffusion in the brainstem and middle cerebellar peduncle in the older sibling, also described in two reported cases. A review of the literature revealed 24 cases of ST3GAL3-related CDG. Twelve cases had information about seizures, and epilepsy was diagnosed in 8 (67%). The median age of seizure onset was 5.5 months. Epileptic spasms were most common (67%). Four children were diagnosed with Infantile Epileptic Spasms syndrome and Lennox Gastaut syndrome (57%). Most children (n = 6, 75%) had seizures despite anti-seizure medication treatment. SIGNIFICANCE: Seizures related to ST3GAL3-related DEE often occur in infancy and may present as epileptic spasms. However, seizure onset may also occur outside of infancy with mixed seizure types and show good response to treatment with prolonged seizure freedom. Tremor may also be uniquely observed in this condition.

Recent advances in E-monitoring of plant diseases.

Infectious plant diseases are caused by pathogenic microorganisms, such as fungi, oomycetes, bacteria, viruses, phytoplasma, and nematodes. Plant diseases have a significant effect on the plant quality and yield and they can destroy the entire plant if they are not controlled in time. To minimize disease-related losses, it is essential to identify and control pathogens in the early stages. Plant disease control is thus a fundamental challenge both for global food security and sustainable agriculture. Conventional methods for plant diseases control have given place to electronic control (E-monitoring) due to their lack of portability, being time consuming, need for a specialized user, etc. E-monitoring using electronic nose (e-nose), biosensors, wearable sensors, and 'electronic eyes' has attracted increasing attention in recent years. Detection, identification, and quantification of pathogens based on electronic sensors (E-sensors) are both convenient and practical and may be used in combination with conventional methods. This paper discusses recent advances made in E-sensors as component parts in combination with wearable sensors, in electronic sensing systems to control and detect viruses, bacteria, pathogens and fungi. In addition, future challenges using sensors to manage plant diseases are investigated.