Novel Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by and While most BFNS families carry alterations in , mutations in appear to be less common.

Genetic Contribution of Variants near SORT1 and APOE on LDL Cholesterol Independent of Obesity in Children.

Objective: To assess potential effects of variants in six lipid modulating genes (SORT1, HMGCR, MLXIPL, FADS2, APOE and MAFB) on early development of dyslipidemia independent of the degree of obesity in children, we investigated their association with total (TC), low density lipoprotein (LDL-C), high density lipoprotein (HDL-C) cholesterol and triglyceride (TG) levels in 594 children. Furthermore, we evaluated the expression profile of the candidate genes during human adipocyte differentiation.

Results: Expression of selected genes increased 10(1) to >10(4) fold during human adipocyte differentiation, suggesting a potential link with adipogenesis.

Pronounced reversible hyperammonemic encephalopathy associated with combined valproate-topiramate therapy in a 7-year-old girl.

Valproate is one of the most frequently used anticonvulsive drugs in children and adults. Valproate is a generally well tolerated medication. However, encephalopathy with or without hyperammonemia is one of its rare adverse events.

Evidence of early alterations in adipose tissue biology and function and its association with obesity-related inflammation and insulin resistance in children.

Accumulation of fat mass in obesity may result from hypertrophy and/or hyperplasia and is frequently associated with adipose tissue (AT) dysfunction in adults. Here we assessed early alterations in AT biology and function by comprehensive experimental and clinical characterization of 171 AT samples from lean and obese children aged 0 to 18 years. We show an increase in adipocyte size and number in obese compared with lean children beginning in early childhood.

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.

Little is known about genes regulating male puberty. Further, while many identified pubertal timing variants associate with age at menarche, a late manifestation of puberty, and body mass, little is known about these variants' relationship to pubertal initiation or tempo. To address these questions, we performed genome-wide association meta-analysis in over 11 000 European samples with data on early pubertal traits, male genital and female breast development, measured by the Tanner scale.

Amyloid precursor protein expression is induced by tumor necrosis factor alpha in 3T3-L1 adipocytes.

Amyloid precursor protein (APP) has been characterized as an adipocyte-secreted protein that might contribute to obesity-related insulin resistance, inflammation, and dementia. In the current study, regulation of APP by the proinflammatory and insulin resistance-inducing cytokine tumor necrosis factor (TNF) alpha was determined in 3T3-L1 adipocytes. Interestingly, APP protein synthesis and mRNA expression were significantly increased by TNFalpha in a time-dependent manner with maximal induction observed after 24 h of treatment.

Interleukin-1beta is a positive regulator of TIARP/STAMP2 gene and protein expression in adipocytes in vitro.

The impact of interleukin (IL)-1beta on tumor necrosis factor alpha-induced adipose-related protein (TIARP)/six-transmembrane protein of prostate 2 (STAMP2) was determined in adipocytes. TIARP/STAMP2 mRNA synthesis was significantly stimulated by IL-1beta in a dose- and time-dependent fashion in 3T3-L1 adipocytes. Signaling studies suggested that janus kinase 2, nuclear factor kappaB, and p44/42 mitogen-activated protein kinase are involved in IL-1beta-induced TIARP/STAMP2 mRNA expression.

Interleukin-1beta induces the novel adipokine chemerin in adipocytes in vitro.

Chemerin has recently been characterized as a novel adipokine playing a crucial role in adipocyte differentiation and insulin signalling. In the current study, the impact of insulin resistance-inducing and proinflammatory interleukin (IL)-1beta on chemerin protein secretion and mRNA expression was determined in 3T3-L1 adipocytes. Interestingly, IL-1beta significantly induced chemerin protein secretion almost 1.

Lipocalin-2 is induced by interleukin-1beta in murine adipocytes in vitro.

Lipocalin-2 (Lcn2) has recently been isolated as an adipocyte-secreted acute phase reactant that plays a role in insulin resistance, obesity, and atherosclerotic disease. In the current study, we determined regulation of Lcn2 by the proinflammatory and insulin resistance-inducing cytokine interleukin (IL)-1beta in 3T3-L1 and brown adipocytes by relative real-time reverse transcription-polymerase chain reaction. Interestingly, IL-1beta dramatically induced Lcn2 mRNA in both adipocyte models.

Tissue inhibitor of metalloproteinase-1 mRNA production and protein secretion are induced by interleukin-1 beta in 3T3-L1 adipocytes.

The adipokine tissue inhibitor of metalloproteinase (TIMP)-1 is upregulated when weight is gained and promotes adipose tissue development. In the present study, the effect of insulin resistance-inducing and proinflammatory interleukin (IL)-1 beta on TIMP-1 gene expression and secretion was investigated in 3T3-L1 adipocytes. Interestingly, protein secretion and mRNA production of TIMP-1 were significantly stimulated by IL-1 beta.

The adipokine SAA3 is induced by interleukin-1beta in mouse adipocytes.

Serum amyloid A (SAA) 3 has been characterized as an inflammatory adipocyte-secreted acute-phase reactant. In the current study, regulation of SAA3 by the proinflammatory and insulin resistance-inducing cytokine interleukin (IL)-1beta was determined in 3T3-L1 and brown adipocytes. Interestingly, SAA3 mRNA and protein synthesis were dramatically increased by IL-1beta in a time-dependent fashion with maximal induction after 24 h.