Categorizing Monogenic Epilepsies by Genetic Mechanisms May Predict Efficacy of the Ketogenic Diet.

Background: The ketogenic diet (KD) is an effective treatment for epilepsy. In recent years, studies have shown favorable efficacy of KD in epilepsy from genetic disorders. In this study, we propose an approach to KD in monogenic epilepsy: we evaluate the utility of categorizing genetic variants based on rational associations with the known mechanisms of KD.

Electroclinical features of myoclonic-tonic and spasm-tonic seizures in childhood.

Myoclonic-tonic (MT) and spasm-tonic (ST) seizures represent distinctive features in late infantile epileptic encephalopathy (LIEE). This commentary aims to delineate the electroclinical characteristics of MT and ST seizures, setting them apart from other seizure types. Our analysis encompasses 211 ST and MT seizures observed in 31 patients diagnosed with LIEE, providing a comprehensive overview of video-EEG features and polygraphic signatures.

Late infantile epileptic encephalopathy: A distinct developmental and epileptic encephalopathy syndrome.

Objective: Within the spectrum of developmental and epileptic encephalopathy (DEE), there are a group of infants with features that are distinct from the well-recognized syndromes of early infantile developmental and epileptic encephalopathy (EIDEE), infantile epileptic spasm syndrome (IESS), and Lennox-Gastaut syndrome (LGS). We refer to this condition as late infantile epileptic encephalopathy (LIEE). Our objective was to highlight the characteristics of this group by analyzing patients who exhibit prototypical features.

Residency Training: A Practical Guide for Medical Students who are Planning a Future in Child Neurology.

At the time of graduation from medical school, medical students have been exposed primarily to adult neurology and have limited exposure to child neurology. Child neurology is a unique field that encompasses caring for children with neurological conditions ranging from routine to rare. There are many opportunities for a variety of unique careers in child neurology including both in the inpatient and outpatient setting.

Modified Atkins diet in children with epilepsy with eyelid myoclonia (Jeavons syndrome).

Background: Epilepsy with eyelid myoclonia(EEM) or Jeavons syndrome is considered a genetic generalized epilepsy with a typical age of onset in childhood. Many types of seizures can be observed, including eyelid myoclonia, absence, generalized tonic-clonic, and myoclonic seizures. Seizures tend to be difficult to control requiring polypharmacy treatment or become drug-resistant.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecular basis for phenotypic variability is unclear. We report a novel recurrent variant, ATP1A3(NM_152296.

Experience with the ketogenic diet in premature neonates.

The ketogenic diet is a time-tested, potent, nonpharmacological treatment of epilepsy. However, the use of the ketogenic diet in premature neonates with epilepsy has not been previously reported. We share our experience with the use of ketogenic diet therapy in two premature neonates.

Efficacy and tolerability of the modified Atkins diet in children with drug-resistant genetic generalized epilepsy.

Objective: The ketogenic diet therapy is a time-tested and potent non-pharmacologic treatment for epilepsy. However, the study of the ketogenic diet in patients with genetic generalized epilepsy (GGE) is not widely established. The aim of this study was to evaluate the efficacy and tolerability of the modified Atkins diet, a variation of the ketogenic diets, as a treatment for drug-resistant GGE.

Genetic and Metabolic Neonatal Epilepsies.

Seizures are a common neonatal neurological disorder with an incidence of 1 to 5 in 1,000 live births. Genetic and metabolic epilepsies account for 10% to 12% of all neonatal seizures. Correct identification and diagnosis are important factors, as they carry treatment and management implications.

Role of Inhaled Corticosteroids for Asthma Exacerbation in Children: An Updated Meta-Analysis.

Background: Several studies showed that inhaled corticosteroids (ICS) may be a potential treatment in acute asthma exacerbation in children. This study was an update meta-analysis on the roles of ICS in the management of acute asthma exacerbation in children presenting to the hospital.

Materials And Methods: Published articles with key words of ICS for asthma exacerbation, asthma attacks, and acute asthma in children aged under 18 years in the hospital setting with outcome of hospital admission between 2009 and 2018 were enrolled.

The best criteria to diagnose metabolic syndrome in hypertensive Thai patients.

The metabolic syndrome (MS) is commonly found in clinical practice. There are many criteria to diagnose MS. The authors did a cross-sectional study to study the difference among the WHO criteria, the National Cholesterol Educational Program (NCEP) Adult Treatment Panel (ATP III), and the International Diabetes Foundation (IDF) in hypertensive patients.