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Background:The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures.Case Report:Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy.Conclusion:This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic.

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Encephalitis is a complex neurological disease that is associated with significant morbidity and mortality, and the etiology of the disease is often not identified. Human metapneumovirus (hMPV) is a common cause of upper and lower respiratory tract infections in children. Few reports are available showing possible involvement of hMPV in development of neurologic complications. Here, we describe an infant, the youngest case in literature, with refractory status epilepticus and severe encephalitis in whom hMPV was detected in respiratory samples and review diagnostic workup of patient with encephalitis.

Background: Obesity in children and adolescents is a serious public-health concern, and obesity research has become an important field of study. Objectives: The aim of this study was to determine the prevalence and risk factors of overweight and obesity in elementary-school children from the first to eighth grade. Methods: This is a descriptive, cross-sectional study. The research sample included 3,028 children from seven elementary schools selected according to stratified random sampling. The data were obtained using a demographic form and a 25-question survey. Each child's height and weight were measured by the researchers. The data were analyzed by frequency and logistic regression in the statistical package for the social sciences and Excel programs. Results:The children were all between 5 and 15 years old. 51.2% of the children were male, 13.4% were overweight (between 85 and 95th percentile) according to the Body Mass Index, and 8.7% were obese (above 95th percentile).