A Comparison of the Clinicoradiological Outcomes of Intertrochanteric Fractures Treated Using Proximal Femoral Nail and Proximal Femoral Nail Anti-rotation.

Background Managing intertrochanteric fractures presents challenges for orthopedic surgeons, not only in fixing the fracture but also in preventing and managing associated complications, especially in the vulnerable geriatric population. Cephalomedullary nails are commonly used for surgical fixation due to their favorable functional profile, which preserves the hip's abductor lever arm and proximal femur anatomy. However, there's a lack of data comparing two major options: proximal femoral nail (PFN) and proximal femoral nail anti-rotation (PFNA). This study aimed to compare the radiological fracture reduction and fixation as well as functional outcomes of these two implants in treating intertrochanteric fractures. Methods The study, spanning 24 months, involved a prospective comparative design. Participants included patients diagnosed with intertrochanteric femur fractures classified as AO Type 31 A1, AO Type 31 A2, and AO Type 31 A3. Fifty patients were evenly distributed into PFN and PFNA groups. Preoperatively, clinical and radiological assessments were conducted, along with serum vitamin D level measurements. Surgeries, performed under anesthesia with image intensifier guidance, followed defined reduction and implant insertion protocols for each group. Postoperatively, evaluations were conducted up to six months, examining parameters such as tip-apex distance (TAD), Cleveland index, and modified Harris hip score, while documenting intraoperative duration and blood loss. Data analysis utilized the statistical software Statistical Package for Social Sciences (SPSS), version 22.0 (IBM Corp., Armonk, NY), employing descriptive statistics, chi-square tests, independent t-tests, and paired t-tests, with significance set at p < 0.05. Results In our study, 50 patients were enrolled, with equal gender distribution (64.0% male, 36.0% female, p=1.000). The mean ages in the PFN and PFNA groups were 66.2 ± 9.8 years and 66.4 ± 11.3 years, respectively (p=0.936). All fractures united by six months, with no implant-related complications reported. PFNA showed significantly lower blood loss and shorter surgery durations (p<0.001). TAD and neck shaft angle were similar between groups (p=0.826, p=0.555). Cleveland index placement and modified Harris hip score improvement were comparable (p=0.836, p<0.001). Predominant vitamin D deficiency was observed in both groups. Conclusion PFNA offers measurable intraoperative benefits over conventional PFN in terms of operative time, blood loss, and need for fluoroscopic imaging. However, no statistically observable benefits were noted in postoperative functional outcomes or complications between the two implants.

Partial subscapularis tear: State-of-the-art.

The subscapularis (SSC) muscle is a crucial anterior glenohumeral stabilizer and internal rotator of the shoulder joint. The partial tears of the SSC might result from traumatic injury or intrinsic degeneration. Partial SSC tears can range in severity and be classified into different categories based on the location of the tear, size of the lesion, and associated pathology. The tear usually begins from the superolateral margin in the first facet and propagates downwards. It is frequently associated with biceps pathology or anterosuperior lesions. These tears are now increasingly recognized as distinct pathology that requires specific diagnostic and management approaches. The current management approaches are shifting towards operative, as partial SSC tears are increasingly recognized as a distinct pathology. At present, there is no consensus regarding the timing of repair, but the relative tendency of the SSC to retract much faster than other rotator cuff muscles, and difficulty in mobilization, advocates an early repair for SSC irrespective of the lesion size. An associated biceps pathology can be treated with either tenotomy (biceps delamination/erosion) or tenodesis. The techniques of partial SSC repair are constantly improving. There is no reported difference in use of 2-anchor-based conventional single-row (SR), a 3-anchor-based interconnected double-row technique, or a 2-anchor-based interconnected hybrid double-row construct in the repair construct. However, the 2-anchor-based interconnected double-row provides an advantage of better superolateral coverage with leading-edge protection, as it helps in placing the superolateral anchor superior and lateral to the original footprint. A timely intervention and restoration of the footprint will help restore and rehabilitate the shoulder. Future directions should prioritise injury prevention, early diagnosis with clinic-radiological cues and targeted interventions to mitigate risk.

Assessing Cardiac Contractility From Single Molecules to Whole Hearts.

Fundamentally, the heart needs to generate sufficient force and power output to dynamically meet the needs of the body. Cardiomyocytes contain specialized structures referred to as sarcomeres that power and regulate contraction. Disruption of sarcomeric function or regulation impairs contractility and leads to cardiomyopathies and heart failure. Basic, translational, and clinical studies have adapted numerous methods to assess cardiac contraction in a variety of pathophysiological contexts. These tools measure aspects of cardiac contraction at different scales ranging from single molecules to whole organisms. Moreover, these studies have revealed new pathogenic mechanisms of heart disease leading to the development of novel therapies targeting contractility. In this review, the authors explore the breadth of tools available for studying cardiac contractile function across scales, discuss their strengths and limitations, highlight new insights into cardiac physiology and pathophysiology, and describe how these insights can be harnessed for therapeutic candidate development and translational.

Pediatric hyperlipidemia.

The leading cause of mortality worldwide is atherosclerotic cardiovascular disease. Atherosclerotic plaques are well known to originate early in the childhood. Identifying hyperlipidemia in early childhood creates an opportunity to prevent major cardiovascular events in adults. Children with identified risk factors are at an increased risk of developing cardiovascular incidents in later life. This article emphasizes the diagnosis and management of pediatric hyperlipidemia with reference to the recent guidelines. In terms of etiology pediatric hyperlipidemia are divided into primary and secondary causes. The mainstay of management includes high-risk target screening, early risk factor identification and lifestyle modifications in vulnerable population. Drug therapy is recommended in primary hyperlipidemia and in children with no response to lifestyle changes.

Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility.

Skeletal muscle actin (ACTA1) mutations are a prevalent cause of skeletal myopathies consistent with ACTA1's high expression in skeletal muscle. Rare de novo mutations in ACTA1 associated with combined cardiac and skeletal myopathies have been reported, but ACTA1 represents only ~20% of the total actin pool in cardiomyocytes, making its role in cardiomyopathy controversial. Here we demonstrate how a mutation in an actin isoform expressed at low levels in cardiomyocytes can cause cardiomyopathy by focusing on a unique ACTA1 mutation, R256H. We previously identified this mutation in multiple family members with dilated cardiomyopathy (DCM), who had reduced systolic function without clinical skeletal myopathy. Using a battery of multiscale biophysical tools, we show that R256H has potent functional effects on ACTA1 function at the molecular scale and in human cardiomyocytes. Importantly, we demonstrate that R256H acts in a dominant manner, where the incorporation of small amounts of mutant protein into thin filaments is sufficient to disrupt molecular contractility, and that this effect is dependent on the presence of troponin and tropomyosin. To understand the structural basis of this change in regulation, we resolved a structure of R256H filaments using Cryo-EM, and we see alterations in actin's structure that have the potential to disrupt interactions with tropomyosin. Finally, we show that ACTA1R256H/+ human induced pluripotent stem cell cardiomyocytes demonstrate reduced contractility and sarcomeric disorganization. Taken together, we demonstrate that R256H has multiple effects on ACTA1 function that are sufficient to cause reduced contractility and establish a likely causative relationship between ACTA1 R256H and clinical cardiomyopathy.

Epidemiology of Osteoporosis.

Background: India has a population capacity of 1.2 billion people. With a worldwide aging population, the prevention and management of osteoporosis has become a significant healthcare challenge. It is crucial to recognize the factors impacting poor bone health and appreciate the many hurdles to treat the disease to provide a better quality of life and decrease the financial burden on healthcare. Purpose: In this review article, we discuss the epidemiology of osteoporosis and address the definition, incidence, and prevalence, geographical variation in the occurrence of osteoporosis, and the risk factors for osteoporosis. Methods: Search terms using various combinations of the keywords 'osteoporosis,' 'epidemiology,' 'incidence,' 'prevalence,' 'fracture,' 'India,' 'world,' 'screening,' and 'FRAX' was done to review all relevant literature till June 2023. Results & Conclusion: India has a recent estimate of population capacity of 1.2 billion people. Various studies have revealed an osteoporosis prevalence in Indian women ranging from 8% to 62%. Poor dietary calcium intake, low vitamin D, and lifestyle changes contribute to osteoporosis.

Total Hip Arthroplasty in Neglected Acetabular Fracture with Pipkin Type 4 Femoral Head Fracture. A Case Report.

Introduction: Pipkin type 4 fracture is defined as hip dislocation with femoral head fracture and concomitant acetabular rim fracture. These fractures are rare. Neglected fractures develop adaptive changes in the acetabulum, femoral head, and soft tissues around the hip joint, leading to hip arthritis. Total hip arthroplasty is preferred in such cases. After an extensive literature review, we did not find any guidelines for managing neglected Pipkin type 4 fractures. Case Report: A 47-year-old male presented with pain in his left hip and an inability to bear weight on his left lower limb. He had a road traffic accident 1 year ago. On clinical examination, there was a shortening of 3 cm and reduced hip range of motion on 3D computed tomography posterosuperior defect of the acetabular wall along with Pipkin type 4 femoral head fracture was detected. Total hip arthroplasty with acetabular reconstruction using a femoral head autograft was done. At 1 year of follow-up, the patient was pain-free and could walk without any assistance with a normal gait. Conclusion: Uncemented total hip arthroplasty with an autologous structural femoral head graft is a suitable method of treatment for neglected Pipkin type 4 fractures. It preserves bone stock and does not add any financial burden.

A geotechnical perspective on soil-termite interaction: Role of termites in unsaturated soil properties.

The soil-insect interaction has gathered significant attention in the recent years due to its contribution to bio-cementation. Termites, as a group of cellulose-eating insects, alter physical (texture) and chemical (chemical composition) properties of soil. Conversely, physico-chemical properties of soil also influence termite activities. It is vital to understand the soil-termite interaction and their influence on hydraulic properties and shear strength of soil, which are related to a series of geotechnical engineering problems such as ground water recharge, runoff, erosion and stability of slopes. In this study, an attempt has been made to review the latest developments and research gaps in our understanding of soil-termite interaction within the context of geo-environmental engineering. The hydraulic properties and shear strength of termite modified soil were discussed with respect to soil texture, density and physico-chemical composition. The incorporation of hysteresis effect of soil water characteristic curve, and spatio-temporal variations of hydraulic conductivity and shear strength of termite modified soil is proposed to be considered in geotechnical engineering design and construction. Finally, the challenges and future trends in this research area are presented. The expertise from both geotechnical engineering and entomology is needed to plan future research with an aim to promote use of termites as maintenance engineers in geotechnical infrastructure.

Hydrological responses to early-peak rainfall in unsaturated rooted soils.

Vegetation has been commonly used in sponge city to remediate problems related to rainstorm events. Unlike uniform rainfall which has been widely studied, effects of early-peak rainfall on hydrological responses in vegetated soils are unclear. Besides, there is a lack of quantitative method of accurately measuring wetting front (WF). This study aims to propose a new WF tracing method, and explore the hydrological responses to early-peak rainfall in unsaturated soils vegetated with dwarf mondo grass. During soil column tests, WF position, matric suction, volumetric water content, surface ponding and overflow drainage were measured. The new WF tracing method works reasonably well for all cases. As compared to uniform rainfalls, early-peak rainfalls caused (1) earlier onsets of ponding (by 20 minutes for vegetation case and by 5 minutes for bare soil) and overflow (by 52 minutes for vegetation case and by 37 minutes for bare soil), (2) greater overflow velocity (by 28% for vegetation case and by 41% for bare soil), and (3) slightly more total overflow amount. Vegetation delayed the ponding/overflow generations, and decreased total overflow drainage, due to enhanced infiltration of surface soil. At 5 cm depth, high-density mixture of fine and coarse roots caused an increase in the saturated water content (θs) and a reduction in the residual water content (θr), because of root-induced changes in soil structure. At 10 cm depth, low-density fine roots caused reductions in both θs and θr, and increased air-entry value, as roots occupy the pores.

Short-term Follow-up of Autologous Adult Live-Cultured Osteoblasts Implantation in Avascular Necrosis of Femoral Head Secondary to Sickle Cell Anemia-Case Series.

Introduction: The prevalence of avascular necrosis (AVN) of the femoral head in sickle cell anemia is 50% whereas untreated cases lead to total hip replacement. The recent development in cellular therapy paves the way to utilize autologous adult live-cultured osteoblasts (AALCO) in the management of AVN of the femoral head secondary to sickle cell anemia. Case Report: We performed AALCO implantation in sickle cell anemia cases with AVN of the femoral head and were followed up for 6 months with the regular recording of visual analog score and modified Harris Hip Score. Conclusion: AALCO implantation for the management of AVN of the femoral head due to sickle cell anemia appears to be the biological management of choice as it results in pain reduction and improvement in function.

Syndromic surveillance system during mass gathering of Panchkroshi Yatra festival, Ujjain, Madhya Pradesh, India.

Background: The health implications surrounding a mass gathering pose significant challenges to public health officials. The use of syndromic surveillance provides an ideal method for achieving the public health goals and objectives at such events. In the absence of published reports of systematic documentation of public health preparedness in mass gatherings in the local context, we describe the public health preparedness and demonstrate the operational feasibility of a tablet-based participatory syndromic surveillance among pilgrims during the annual ritual circumambulation- Panchkroshi Yatra. Methods: A real-time surveillance system was established from 2017-2019 to capture all the health consultations done at the designated points (medical camps) in the Panchkroshi yatra area of the city Ujjain in Madhya Pradesh. We also surveyed a subset of pilgrims in 2017 to gauge satisfaction with the public health measures such as sanitation, water, safety, food, and cleanliness. Results: In 2019, injuries were reported in the highest proportion (16.7%; 794/4744); most numbers of fever cases (10.6%; 598/5600) were reported in 2018, while 2017 saw the highest number of patient presentations of abdominal pain (7.73%; 498/6435). Conclusion: Public health and safety measures were satisfactory except for the need for setting up urinals along the fixed route of the circumambulation. A systematic data collection of selected symptoms among yatris and their surveillance through tablet could be established during the panchkroshi yatra, which can complement the existing surveillance for detecting early warning signals. We recommend the implementation of such tablet-based surveillance during such mass gathering events.

Functional assays reveal the pathogenic mechanism of a de novo tropomyosin variant identified in patient with dilated cardiomyopathy.

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and a major indicator for heart transplant. Human genetic studies have identified over a thousand causal mutations for DCM in genes involved in a variety of cellular processes, including sarcomeric contraction. A substantial clinical challenge is determining the pathogenicity of novel variants in disease-associated genes. This challenge of connecting genotype and phenotype has frustrated attempts to develop effective, mechanism-based treatments for patients. Here, we identified a de novo mutation (T237S) in TPM1, the gene that encodes the thin filament protein tropomyosin, in a patient with DCM and conducted in vitro experiments to characterize the pathogenicity of this novel variant. We expressed recombinant mutant protein, reconstituted it into thin filaments, and examined the effects of the mutation on thin filament function. We show that the mutation reduces the calcium sensitivity of thin filament activation, as previously seen for known pathogenic mutations. Mechanistically, this shift is due to mutation-induced changes in tropomyosin positioning along the thin filament. We demonstrate that the thin filament activator omecamtiv mecarbil restores the calcium sensitivity of thin filaments regulated by the mutant tropomyosin, which lays the foundation for additional experiments to explore the therapeutic potential of this drug for patients harboring the T237S mutation. Taken together, our results suggest that the TPM1 T237S mutation is likely pathogenic and demonstrate how functional in vitro characterization of pathogenic protein variants in the lab might guide precision medicine in the clinic.

A simplified model for analyzing rainwater retention performance and irrigation management of green roofs with an inclusion of water storage layer.

Rainwater retention and water content in green roofs are primarily influenced by structural configurations (i.e., soil layer, vegetation layer, and water storage layer) and climatic factors (i.e., rainfall and evapotranspiration (ET)). Based on the principle of water balance, this study proposes a conceptual model for simulating water flow in green roofs with water storage layers. Three green roof model experiments were conducted from August 1st, 2020 to July 31st, 2021 for calibrating and verifying the conceptual model. The proposed model was solved iteratively using a newly developed program in Visual Basic. The results showed that the conceptual model can capture the dynamic variations in the rainwater retention and water content of green roofs well. The average Nash-Sutcliffe efficiency coefficient is 0.65 and the average error is 6%. The annual rainwater retention capacity (RRC) of green roofs in the perennial rainy climate model was on average 28% higher than that in the seasonal rainy climate model. At the expense of water stress, high ET plants significantly increased the annual RRC of green roofs at a low level. As the water storage layer depth increased from zero to 150 mm, the annual RRC of green roofs increased by 41%, and the water stress decreased by 49%. Compared with an increase in water holding capacity and soil depth, the response of the annual RRC and water stress of green roofs for increasing water storage layer depth is much greater. As per climate of Southern China region, the water storage layer depth of 100 mm is found to obtain optimal rainwater retention and irrigation management in green roof with similar soil thickness (100 mm).

Adsorptive behavior of micro(nano)plastics through biochar: Co-existence, consequences, and challenges in contaminated ecosystems.

The abundance of micro(nano)plastics in natural ecosystems is a crucial global challenge, as these small-sized plastic particles originate from land-based and marine-based activities and are widely present in marine, freshwater, and terrestrial ecosystems. Micro(nano)plastics can significantly be reduced through various methods, such as biological, chemical, and physical techniques. Biochar is a low-cost adsorbent and is considered an efficient material and its application is ecologically effective carbon-negative for remediation of organic and inorganic pollutants. Therefore, this review critically discusses the fate and transport of micro(nano)plastics and their interactions with different biochar in aqueous and column porous media. This review outlines the implications of biochar with the co-existence of micro(nano)plastics in efforts to understand their coupled effects on soil physicochemical properties, microbial communities, and plant growth, along with the removal of heavy metals and other toxic contaminants. In batch experiments, biochar synthesized from various biomasses such as corn straw, hardwood, pine and spruce bark, corncob, and Prosopis juliflora had shown high level of removal efficiency (>90 %) for microplastic adsorption under varying environmental conditions viz., pH, temperature, ionic strength, particle size, and dose due to chemical bonding and electrostatic attractions. Increased temperature of the aqueous solutions encouraged higher adsorption, while higher pH and dissolved organic matter and nutrients may show decreased adsorption capacities for micro(nano)plastics using biochar. Compared to other available physical, chemical, and biological methods, biochar-amended sand filters in column experiments have been very efficient in removing micro(nano)plastics. In saturated column porous media, various microplastics could be inhibited using biochar due to decreased electrostatic repulsion, steric hindrance, and competitive sorption due to humic acid, ionic strength, and cations. Finally, this review provides in-depth insights on further investigations and recommendations for overall micro(nano)plastics removal using biochar-based materials.

Soil nutrient distribution and plant nutrient status in a mangrove stand adjacent to an aquaculture farm.

The marine aquaculture industry has caused a suite of adverse environmental consequences, including offshore eutrophication. However, little is known about the extent to which aquaculture effluents affect nearby wetland ecosystems. We carried out a field experiment in a mangrove stand located between two effluent-receiving creeks to estimate the extent to which marine aquaculture affects the soil nutrient distribution and plant nutrient status of adjacent mangroves. Carbon (C), nitrogen (N), and phosphorus (P) contents and C isotopic signatures were determined seasonally in creeks, pore water, surface soils, and in the leaves of the dominant mangrove species Kandelia obovata. The creeks exhibited nutrient enrichment (2.44 mg N L-1 and 0.09 mg P L-1 on average). The soils had N (from 1.40 to 2.70 g kg-1) and P (from 0.58 to 2.76 g kg-1) much greater than those of pristine mangrove forests. Combined analyses of the N:P ratio, nutrient resorption efficiency, and proficiency indicated that soil P met plant demands, but plants in most plots showed N limitation, suggesting that soil nutrient accumulation did not fundamentally impact the plant nutrient status. Collectively, this case study shows that marine aquaculture farms can affect adjacent mangrove stands even though their effluents are not directly discharged into the mangrove stands, but mangrove forests may have substantial buffering capabilities for long-term nutrient loading.

Unforeseen Outcomes Post Treatment for Radiation Induced Trismus: A Case Report.

Post radiotherapy radiation trismus presents significant concerns for a patient's quality of life and for the clinical monitoring for recurrence of head and neck oncology. Current treatments include scar band release surgery that has been shown to be safe and effective. We present a case with a rare, post-operative complication of difficulty of mouth closure that can pose a significant impact on quality of life that should be considered.

Plasma Interleukin-33 Cannot Predict Hip Osteonecrosis in Patients With Sickle Cell Disease: A Case-Control Study.

Background Plasma interleukin-33 (IL-33), a cytokine associated with inflammatory and autoimmune disease, has been described to be significantly raised in osteonecrosis of the femoral head (ONFH) and hence was recommended for use as a marker for ONFH. The concentration of plasma interleukin-33 level has not been estimated in any studies conducted in patients with sickle cell disease (SCD); hence, we investigated the levels of plasma interleukin-33 in patients with sickle cell disease with or without ONFH to assess whether it can be used as a marker for the early detection of ONFH in this disease also. Methods Forty-four consecutive patients with sickle cell disease with osteonecrosis of the femoral head and matched controls without ONFH were evaluated for plasma interleukin-33 levels by enzyme-linked immunosorbent assay (ELISA). All patients were confirmed for sickle cell disease using high-performance liquid chromatography (HPLC). ONFH was diagnosed in patients with sickle cell disease using clinical-radiological findings. Univariate and multivariate analyses were performed using the IL-33 level as the dependent variable. Results Plasma IL-33 levels were comparable in 44 patients with sickle cell disease with osteonecrosis of the femoral head as compared with 24 patients with sickle cell disease without ONFH (2.05 ± 4.57 pg/mL versus 1.50 ± 2.89 pg/mL, p-value = 0.590). There was no significant difference in IL-33 levels in different stages of avascular necrosis (AVN). Conclusions Plasma interleukin-33 levels cannot act as a marker of ONFH as were being considered in idiopathic ONFH or ONFH caused by other causes such as trauma and chronic steroid or alcohol usage.

Experimental and numerical investigation on hydrological characteristics of extensive green roofs under the influence of rainstorms.

Green roof rainwater retention, peak runoff reduction, and runoff time delay are considered important hydrological performance indicators for assessing management of urban stormwater. In this study, simulated rainfall experiments were conducted on three green roof models with different water storage layer depths. The numerical model was established using Hydrus-1D program, and the sensitivity of main parameters, the hydrological response of green roofs with a water storage layer, and water storage on the soil surface were analyzed. In addition to the saturated water content of the soil, the depth of the green roof water storage layer is the most sensitive parameter to rainwater retention and initial drainage time. During the simulated rainfall experiment, the 25-mm-deep water storage layer (WSL-25) increased the rainwater retention capacity (RRC) by 46%. For a 20-year return period corresponding to South China region, the RRC of green roofs with WSL-25 increased by 31% compared with that without a water storage layer. The initial drainage time was delayed by 50 min, and the peak drainage rate was reduced by 89%. In this case, a 100-mm soil layer, a 50-mm water storage layer, and a 50 mm maximum surface water storage depth were considered the optimal structural configurations of green roofs. This shows that water storage on the soil surface and bottom water storage layer were equally important for improving RRC, reducing peak drainage and delaying drainage time of green roofs.

Congenital Elbow Dislocation: A Case Report.

CASE: We present a case of a 12-day-old male baby who presented with right elbow deformity and inability to flex the elbow. Radiographs and computed tomography scan of the elbow revealed loss of humeroulnar alignment, superior migration of olecranon, and posteromedial displacement, suggesting an elbow dislocation. The child was successfully managed with open reduction and Kirschner wire fixation of the elbow joint. At 1-year follow-up, the child has a well-reduced and stable elbow joint with a functional range of movements. CONCLUSION: Congenital dislocation of the ulnohumeral joint can occur because of hypoplasia of the skeletal components or tissue interposition within the joint articulation.

A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.

SCN8A gene encodes sodium channel alpha subunit Nav1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability to severe epileptic syndromes with different types of seizures. We hereby report a case of a one-year old female who had an onset of infantile spasms on the seventeenth day of life, which gradually progressed to focal, multifocal, GTCS, and epileptic encephalopathy by one year of age associated with global developmental delay and hypotonia. All metabolic workup, TMS, GCMS, and MRI brain were normal. EEG at 2.5 months was suggestive of epileptic discharge arising from the left frontal region, evolving into generalized discharges. Whole exome sequencing revealed a heterozygous mutation in the SCN8A gene at exon 16 (p.Val892Ala) suggestive of Early Infantile Epileptic Encephalopathy-13 (EIEE-13). This is a novel mutation in the SCN8A gene which has not been reported previously in the literature.