Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy.

NUS1 is responsible for encoding of the Nogo-B receptor (NgBR), which is a subunit of cis-prenyltransferase. Over 25 variants in NUS1 have been reported, and these variants have been found to be associated with various phenotypes, such as congenital disorders of glycosylation (CDG) and developmental and epileptic encephalopathy (DEE). We report on the case of a patient who presented with language and motor retardation, epilepsy, and electroencephalogram abnormalities. Upon conducting whole-exome sequencing, we discovered a novel pathogenic variant (chr6:118024873, NM_138459.5: c.791 + 6T>G) in NUS1, which was shown to cause Exon 4 to be skipped, resulting in a loss of 56 amino acids. Our findings strongly suggest that this novel variant of NUS1 is responsible for the development of neurological disorders, including epilepsy. It is believed that the truncation of Nogo-B receptor results in the loss of cis-prenyltransferase activity, which may be the underlying cause of the disease.

Influenza-associated neurologic complications in children from an H3N2 outbreak in Shenzhen, China during COVID-19 lockdown.

OBJECTIVES: To identify the characteristics of influenza-associated neurologic complications (INCs) in children from a recent H3N2 outbreak in Shenzhen, China during COVID-19 lockdown. METHODS: A retrospective cohort study of INCs in children hospitalized with H3N2 infection was conducted. RESULTS: From June 01, 2022 to July 01, 2022, 513 children with H3N2 infection were hospitalized and 97 developed INCs. Of the 18 patients with encephalopathy/encephalitis, 13 were previously healthy. Three developed acute necrotizing encephalopathy and two died. Of the 63 patients with febrile seizures, 55 (87%) had simple febrile seizures. Of the 14 patients with an exacerbation of seizure with underlying epilepsy, the seizure symptoms occurred mostly within 24 hours of disease onset (13/14). The comparison of the three groups (encephalopathy/encephalitis, febrile seizure and exacerbation of seizure with underlying epilepsy) reported no significant differences in sex, pre-existing neurologic diseases, vaccination rate, white blood cell count, C-reactive protein, procalcitonin, blood glucose, lactic acid, or duration of fever. The influenza vaccination rates were generally low (22% vs 32% vs 21%). Patients with encephalopathy/encephalitis had a higher rate of elevated alanine aminotransferase (28% vs 3% vs 0, P = 0.005). CONCLUSION: H3N2-related neurologic complications in children mainly occur early in the disease course. Most patients were previously healthy and unvaccinated against influenza. Elevated alanine aminotransferase is more common in encephalopathy/encephalitis.

White-Sutton syndrome and congenital heart disease: case report and literature review.

BACKGROUND: White-Sutton syndrome is an autosomal dominant neurodevelopmental disorder caused by heterozygous mutation in POGZ (Pogo Transposable Element Derived with ZNF Domain). This syndrome is characterized by delayed psychomotor development apparent in infancy and abnormal facial features. To date, 80 cases have been reported in the literature; however, the phenotypic characterizations remain incomplete. CASE PRESENTATION: We herein describe a 2-year-old girl harboring a novel frameshift de novo POGZ variant: c.2746del (p.Thr916ProfsTer12). This patient presented with multisystem abnormalities affecting the digestive tract and neurological functioning, as well as congenital heart disease, which involved an atrial septal defect (18 × 23 × 22 mm) with pulmonary arterial hypertension (42 mmHg). The relationship between congenital heart disease and White-Sutton syndrome as described in both the GeneReview and OMIM databases (#616,364) remains unclear. A review of the current literature revealed 18 cases of White-Sutton syndrome with POGZ variants and congenital heart disease, and we summarize their clinical features in this study. CONCLUSIONS: Our findings based on the present case and those in the literature indicate a relationship between POGZ mutation and congenital heart disease.

Myelin oligodendrocyte glycoprotein antibody-associated aseptic meningitis without neurological parenchymal lesions: A novel phenotype.

BACKGROUND: Myelin oligodendrocyte glycoprotein (MOG) antibodies mediate inflammatory demyelinating diseases of the central nervous system. This study aimed to understand the clinical characteristics of MOG antibody-associated aseptic meningitis (MOGAM). METHODS: Here, we report the cases of two children with MOGAM. A systematic literature review was conducted and included patients who had MOGAM only, without neurological parenchymal lesions. The clinical characteristics that may have affected the outcome were statistically analyzed. RESULTS: We reviewed 12 cases of MOGAM; male: female = 9: 3. Prolonged fever lasting over 7 days (11/12) was the most frequent symptom, followed by headache (10/12), vomiting (5/12), and seizures (4/12). None of the patients had focal neurological manifestations or parenchymal lesions on imaging. Cerebrospinal fluid (CSF) leukocytosis was observed in all patients (12/12), and blood leukocytosis and elevated CSF pressure was observed in all patients who had corresponding results (9/9 and 4/4, respectively). Seizures occurrence was lower than that of MOG antibody-associated cortical encephalitis. Seven cases progressed to other MOG antibody-associated diseases (MOGADs) in the later phase of MOGAM. Patients who did not progress to other MOGADs had a shorter disease duration from onset to the initiation of intravenous methylprednisolone than those who did. All the patients achieved full recovery after steroid treatment. One patient had relapses. CONCLUSIONS: MOGAM without inflammatory demyelination is a rare but distinct phenotype of MOGAD, with fewer clinical manifestations mimicking bacterial or viral meningitis/encephalomeningitis. Delayed diagnosis and treatment may induce the progression to other severe MOGADs. Early recognition of this unique autoimmune aseptic meningitis may contribute to early diagnosis, treatment, and better outcomes.

Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report.

BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disorder and characterized by marked elevation of blood ammonia. The goal of treatment is to minimize the neurological damage caused by hyperammonemia. OTCD can be cured by liver transplantation (LT). Post-transplant patients can discontinue anti- hyperammonemia agents and consume a regular diet without the risk of developing hyperammonemia. The neurological damage caused by hyperammonemia is almost irreversible. CASE SUMMARY: An 11.7-year-old boy presented with headache, vomiting, and altered consciousness. The patient was diagnosed with late-onset OTCD. After nitrogen scavenging treatment and a protein-free diet, ammonia levels were reduced to normal on the third day of admission. Nevertheless, the patient remained in a moderate coma. After discussion, LT was performed. Following LT, the patient's blood ammonia and biochemical indicators stabilized in the normal range, he regained consciousness, and his nervous system function significantly recovered. Two months after LT, blood amino acids and urine organic acids were normal, and brain magnetic resonance imaging showed a decrease in subcortical lesions. CONCLUSION: LT can significantly improve partial neurological impairment caused by late-onset OTCD hyperammonemic encephalopathy, and LT can be actively considered when early drug therapy is ineffective.

Effects of Stable Vagus Nerve Stimulation Efficacy on Autistic Behaviors in Ten Pediatric Patients With Drug Resistant Epilepsy: An Observational Study.

Vagus nerve stimulation (VNS) is a safe and effective therapy for pediatric patients with drug-resistant epilepsy (DRE). However, in children with DRE, the effects of VNS on autistic behaviors remain controversial. We retrospectively collected data from 10 children with DRE who underwent VNS implantation and regular parameter regulation in three pediatric epilepsy centers, and completed the behavioral assessments, including the autistic behavior checklist and the child behavior checklist, at follow-ups 1 (mean 2.16 years) and 2 (mean 2.98 years). The 10 children maintained stable seizure control between the two follow-ups. Their autistic behaviors, especially in language, social and self-help, were reduced at follow-up 2 compared to follow-up 1 (p = 0.01, p = 0.01, respectively). Moreover, these improvements were not associated with their seizure control, whether it was positive or negative. These results suggested that the VNS had a positive effect on autistic behaviors, which provided a preliminary clinical basis that VNS may benefit to younger children with DRE comorbidity autism spectrum disorder (ASD).

Improving the effects of ketogenic diet therapy in children with drug-resistant epilepsy.

PURPOSE: To evaluate the retention rate, efficacy, and safety of ketogenic diet therapy for drug-resistant epilepsy in children and compare the results with those of a previous cohort at our institution. METHODS: A total of 634 children with drug-resistant epilepsy were included in this retrospective study. Patients were categorized into two groups. The previous cohort was included as a control group and included 317 children assessed between 2004 and 2011, whereas the current group included 317 children assessed between 2015 and 2019. The control group was provided care as usual, and the current group additionally adopted the goal and long-term management strategy. Outcomes were measured with respect to retention rate, seizure reduction, and adverse reaction. RESULTS: Patient demographics were consistent between both cohorts. Compared to the past ten years, the retention rate significantly increased over time (3 months: 62.8% vs. 82.0%, p <0.001; 6 months: 42.0% vs. 60.6%, p <0.001; 12 months: 24.3% vs. 34.1%, p = 0.007), and the response rate was significantly improved (3 months: 35.0% vs. 55.5%, p <0.001; 6 months: 26.2% vs. 43.2%, p <0.001; 12 months: 18.6% vs. 31.5%, p <0.001). Constipation (n = 79, 24.9%) was the most common side effect in the current cohort. Food refusal and hypoproteinaemia reduced to 3.5% and 0.9%, respectively. CONCLUSION: Goal and long-term management is effective for ketogenic diet therapy, which significantly improved the ketogenic diet retention rate, efficacy, and incidence of adverse reactions. This strategy has promising applicability in ketogenic diet therapy. CLINICAL REGISTRATION: ChiCTR-IIR-16,008,342.

Long-term outcomes of infantile spasms in children treated with ketogenic diet therapy in combination with anti-seizure medications in a resource-limited region.

Objective: Despite numerous guidelines, the overall outcome of infantile spasms is poor, with only a small number of patients being able to attend school. The purpose of this study was to investigate long-term outcomes. Patients had poor access to the recommended first-line anti-seizure medications (ASMs), such as hormones (corticotropin or prednisolone/prednisone) and vigabatrin, and their alternative treatment was other ASMs and a ketogenic diet. Methods: Patients suffering from infantile spasms who had at least 2 years of medical records in the electronic medical record system between January 2014 and August 2022 were included in this study. Patient information was retrospectively reviewed. All patients had received ketogenic diet therapy (mainly classical ketogenic diet therapy). The ketogenic diet therapy was combined with ASMs not used as first-line therapies. The primary endpoint outcome measure was the number of patients with seizure freedom. The secondary measures included the duration of ketogenic diet therapy, choice of ASMs, and patient development at the last visit. Results: A total of 177 patients with infantile spasms were included, and 152 (86%) of them had seizure freedom. The median duration from the first to the last hospital visit was 53.27 months, and the number of visits was 47.00. The median age at the initial hospital visit was 8.00 months, and the median age at initiation of the ketogenic diet was 17.73 months. At the last visit, the proportions of patients with neurodevelopmental delay, developmental epileptic encephalopathy, drug-resistant epilepsy, and generalized seizures increased significantly. The frequently used ASMs were topiramate, valproic acid, levetiracetam, nitrazepam, and vitamin B6 injection, while the recommended first-line drugs corticotropin and vigabatrin were rarely selected. The study duration of 9.5 years was divided into three periods but the prescription of ASMs did not change significantly between these periods. Conclusions: Although the seizure freedom rate was high with ketogenic diet therapy combined with non-standard ASMs, the patients had a significant neurodevelopmental delay at the last visit, which was, however, similar to that of standard treatment. To improve the outcomes of infantile spasms, multicenter clinical trials of the ketogenic diet as a first-line treatment in combination with non-standard ASMs are needed.

Molten-Salt-Assisted CsPbI3 Perovskite Crystallization for Nearly 20%-Efficiency Solar Cells.

Dynamic manipulation of crystallization is pivotal to the quality of polycrystalline films. A molten-salt-assisted crystallization (MSAC) strategy is presented to improve grain growth of the all-inorganic perovskite films. Compared with the traditional solvent annealing, MSAC enables more intensive mass transfer by means of convection and diffusion, which is beneficial to the interaction among the precursor colloids and to inducing in-plane growth of perovskite grains, resulting in the formation of high-quality perovskite films with suppressed pinhole and crack formation. Additionally, the introduction of molten salt alters the intermediate phases, and thus changes the crystallization pathways by reducing the energy barrier to produce films with desired optical and electrical properties. As a result, the MSAC strategy endows the devices with champion steady-state output efficiency of 19.83% and open-circuit voltage (Voc ) as high as 1.2 V, among the highest for this type of solar cell, thanks to its effectively reduced Voc deficit.

Deep-Level Transient Spectroscopy for Effective Passivator Selection in Perovskite Solar Cells to Attain High Efficiency over 23.

Most studies choose passivators essentially in a trial-and-error fashion in an attempt to attain high efficiency in perovskite solar cells (PSCs). Using deep-level transient spectroscopy (DLTS) measurements, the type of defects in perovskite films was determined to guide the passivator selection for PSCs. Three kinds of positively charged defects were found in the target PSC system. Fluorinated phenylethylamine hydroiodide (FPEAI) was chosen to passivate the surface defects due to the electronegativity and hydrophobicity of fluorine. Due to the decreased surface roughness, increased hydrophobicity, lowered defect density, and improved carrier dynamics as observed by ultrafast transient absorption spectroscopy (TAS), a PSC with meta-F-PEAI had the best efficiency over 23 % with open-circuit voltage of 1.155 V and fill factor of 80.15 %. In addition, the long-term stability of the PSC was significantly improved. The present work provides a new means to select the best passivator for different types of defects.

Effective Phase-Alignment for 2D Halide Perovskites Incorporating Symmetric Diammonium Ion for Photovoltaics.

New structural type of 2D AA'n -1 Mn X3 n +1 type halide perovskites stabilized by symmetric diammonium cations has attracted research attention recently due to the short interlayer distance and better charge-transport for high-performance solar cells (PSCs). However, the distribution control of quantum wells (QWs) and its influence on optoelectronic properties are largely underexplored. Here effective phase-alignment is reported through dynamical control of film formation to improve charge transfer between quantum wells (QWs) for 2D perovskite (BDA)(MA)n -1 Pbn I3 n +1 (BDA = 1,4-butanediamine, 〈n〉 = 4) film. The in situ optical spectra reveal a significantly prolonged crystallization window during the perovskite deposition via additive strategy. It is found that finer thickness gradient by n values in the direction orthogonal to the substrate leads to more efficient charge transport between QWs and suppressed charge recombination in the additive-treated film. As a result, a power conversion efficiency of 14.4% is achieved, which is not only 21% higher than the control one without additive treatment, but also one of the high efficiencies of the low-n (n ≤ 4) AA'n -1 Mn X3 n +1 PSCs. Furthermore, the bare device retains 92% of its initial PCE without any encapsulation after ambient exposure for 1200 h.

Intermolecular Interaction Control Enables Co-optimization of Efficiency, Deformability, Mechanical and Thermal Stability of Stretchable Organic Solar Cells.

Promoting efficiency, deformability, and life expectancy of stretchable organic solar cells (OSCs) have always been key concerns that researchers are committed to solving. However, how to improve them simultaneously remains challenging, as morphology parameters, such as ordered molecular arrangement, beneficial for highly efficient devices actually limits mechanical stability and deformability. In this study, the unfavorable trade-off among these properties has been reconciled in an all-polymer model system utilizing a mechanically deformable guest component. The success of this strategy stems from introducing a highly ductile component without compromising the pristine optimized morphology. Preferable interaction between two donors can maintain the fiber-like structure while enhancing the photocurrent to improve efficiency. Morphology evolution detected via grazing incidence X-ray scattering and in situ UV-vis absorption spectra during stretching have verified the critical role of strengthened interaction on stabilizing morphology against external forces. The strengthened interaction also benefits thermal stability, enabling the ternary films with small efficiency degradation after heating 1500 h under 80 °C. This work highlights the effect of morphology evolution on mechanical stability and provides new insights from the view of intermolecular interaction to fabricate highly efficient, stable, and stretchable/wearable OSCs.

Morphology Evolution of a High-Efficiency PSC by Modulating the Vapor Process.

The morphological quality of the photoactive layer is the key component affecting the performance metrics of a photovoltaic device. Therefore, fine adjustment of the crystallization dynamics is urgently required. By manipulating the amount of dimethyl sulfoxide (DMSO) remaining in the spin-coated perovskite films during the annealing treatment, an obvious morphological evolution arises. The crystallization kinetics is significantly altered due to the formation of intermediate phases and the variation of DMSO vapor pressure via producing the semienclosed space with a covering. On the one hand, the obviously formed intermediate phase MA2 Pb3 I8 (DMSO)2 retards the crystallization process. On the other hand, the DMSO vapor in the semienclosed space intrigues the recrystallization process and results in Ostwald ripening to produce large-aspect-ratio grains with fewer defect states, decreased carrier doping, and longer carrier lifetimes. Thus, nonradiative processes are greatly suppressed. Besides, combined with X-ray photoelectron spectroscopy measurement and the surface energy of MAI- and PbI-terminated surface model calculated by density functional theory, the defect states are identified and the causes of Pb0 defect states are explained. Using this strategy, a high power conversion efficiency of 20.09% is achieved based on MAPbI3 photovoltaic solar cell, and the long-term ambient shelf and thermal stability are obviously improved.

Status Epilepticus Manifested as Continuous Epileptic Spasms.

Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature. Here, we described 11 children, who manifested continuous epileptic spasms with various etiologies and different outcomes. Methods: This is a case series study designed to systematically review the charts, video-electroencephalography (video-EEG), magnetic resonance images, and longitudinal follow-up of patients who presented continuous epileptic spasms lasting more than 30 min. Results: Median age at onset was 2 years old, ranging from 2 months to 5.6 years. The etiology of continuous epileptic spasms for these 11 cases consisted of not only some known electro-clinical epilepsy syndromes like West Syndrome and Ohtahara Syndrome, but also secondary symptomatic continuous epileptic spasms, caused by acute encephalitis or encephalopathy, which extends the etiological spectrum of continuous epileptic spasms. The most characteristic feature of these 11 cases was prolonged epileptic spasms, lasting for a median of 13.00 days (95% CI: 7.26-128.22 days). The interictal EEG findings typically manifested as hypsarrhythmia or its variants, including burst suppression. Hospital stays were much longer in acute symptomatic cases than in primary epileptic syndromic cases (59.67 ± 50.82 vs. 15.00 ± 1.41 days). However, the long-term outcomes were extremely poor in the patients with defined electro-clinical epilepsy syndromes, including severe motor and intellectual developmental deficits (follow-up of 4.94 ± 1.56 years), despite early diagnosis and treatment. Continuous epileptic spasms were refractory to corticosteroids, immuno-modulation or immunosuppressive therapies, and ketogenic diet. Conclusion: Continuous epileptic spasms were associated with severe brain impairments in patients with electro-clinical syndromes; and required long hospital stays in patients with acute symptomatic causes. We suggest to include continuous epileptic spasms in the international classification of status epilepticus, as a special form. Further investigations are required to better recognize this condition, better understand the etiology, as well as to explore more effective treatments to improve outcomes.

Compositional Control in 2D Perovskites with Alternating Cations in the Interlayer Space for Photovoltaics with Efficiency over 18.

2D perovskites stabilized by alternating cations in the interlayer space (ACI) represent a very new entry as highly efficient semiconductors for solar cells approaching 15% power conversion efficiency (PCE). However, further improvements will require understanding of the nature of the films, e.g., the thickness distribution and charge-transfer characteristics of ACI quantum wells (QWs), which are currently unknown. Here, efficient control of the film quality of ACI 2D perovskite (GA)(MA)n Pbn I3 n +1 (〈n〉 = 3) QWs via incorporation of methylammonium chloride as an additive is demonstrated. The morphological and optoelectronic characterizations unambiguously demonstrate that the additive enables a larger grain size, a smoother surface, and a gradient distribution of QW thickness, which lead to enhanced photocurrent transport/extraction through efficient charge transfer between low-n and high-n QWs and suppressed nonradiative charge recombination. Therefore, the additive-treated ACI perovskite film delivers a champion PCE of 18.48%, far higher than the pristine one (15.79%) due to significant improvements in open-circuit voltage and fill factor. This PCE also stands as the highest value for all reported 2D perovskite solar cells based on the ACI, Ruddlesden-Popper, and Dion-Jacobson families. These findings establish the fundamental guidelines for the compositional control of 2D perovskites for efficient photovoltaics.

The effects of ketogenic diet on the Th17/Treg cells imbalance in patients with intractable childhood epilepsy.

PURPOSE: The ketogenic diet (KD) is an effective treatment for intractable epilepsy (IE), however the therapeutic mechanism is still unclear. This study was designed to investigate T helper type 17/regulatory T cell (Th17/Treg) levels in children with IE and age-matched healthy controls following KD. METHOD: Circulating levels of Th17/Treg cells were analyzed by flow cytometry. Plasma concentration of interleukin (IL)-17 was measured by cytometric bead array assay. Real-time PCR was performed to measure mRNA levels of mTOR, HIF1α and Th17/Treg associated factors in purified CD4(+)CD25(+) T and CD4(+)CD25(-) T cells. RESULTS: By one-way ANOVA, the proportion of circulating Th17 cells and expression of IL-17A and RORγt were significantly higher (P<.05), while the proportion of circulating Tregs and expression of Foxp3, GITR, CTLA-4 were significantly lower (P<.05) in IE patients than healthy subjects. However, these alternations were reversed following KD (P<.05). In CD4(+)CD25(+) T and CD4(+)CD25(-) T cells mTOR and HIF1α expression were significantly higher in IE patients (P<.05), however KD reduced mTOR and HIF1α expression (P<.05). The plasma IL-17A concentrations were higher in IE patients than controls (P<.05). KD partially reduced IL-17A levels (P<.05). CONCLUSION: Our results suggest that Th17/Treg imbalance is characteristic of childhood IE, and may contribute to IE pathogenesis. KD treatment is able to correct this imbalance, probably via inhabiting the mTOR/HIF-1α signaling pathway.

[Benign infantile convulsions with mild gastroenteritis: clinical analysis of 40 cases].

OBJECTIVE: To investigate the pathogenesis, clinical characteristics and treatment of benign infantile convulsions with mild gastroenteritis (BICG). METHODS: The clinical manifestations and laboratory findings were observed in 40 children with BICG. The antigen and antibodies of rotavirus and calicivirus in stool and cerebral spinal fluid (CSF) were tested by the golden standard method and ELISA. The neurological outcome was evaluated by a follow-up of six months or more. RESULTS: All of the 40 children had mild gastroenteritis with or without minor dehydration. Cluster convulsions were observed in these children. There were normal findings in blood biochemistry (Na+, K+, Ca2+, Cl-, HCO3-, glucose) and cerebral CT or MRI examinations. The interictal EEG showed sprinkle central or frontal epileptiform discharges in 8 children; clear central and parietal epileptiform discharges in 1 child; and no abnormal findings were observed in the other 31 children. Positive rotavirus antigen was detected in 11 children and positive calicivirus antigen in stool samples in 4 children. Positive antibodies of rotavirus and calicivirus in CSF were not seen. Seizures recurred in 22 of 28 children who received prophylactic injections of phenobarbital(5-10 mg/kg). In a 6 months follow-up, one child developed epilepsy and the other 39 children had no seizures and neurological sequelae. CONCLUSIONS: The digestive system manifestations are mild in children with BICG. Convulsions are always clustered in these children. The mechanism underlying convulsions is not clear. Conventional dose of phenobarbital is not effective for prevention of seizures. Most of children with BICG have a good prognosis.

[Follow-up of tuberous sclerosis complex complicated by epilepsy in children].

OBJECTIVE: To investigate the treatment outcome and risk factors for intractable seizures in children with tuberous sclerosis complex(TSC)complicated by epilepsy. METHODS: The medical data of 66 cases of TSC were retrospectively studied. RESULTS: Of the 66 children with TSC, 47 cases were available for follow-up. The follow-up period ranged from 7 months to 9.3 years (average 4.5 + or - 2.6 years). The patients' present average age was (7.7 + or - 4.1) years (median 8 years). Among the 47 cases, 19 (40%) had infantile spasms, 24 (51%) had tonic seizures, 15 (32%) had partial seizures, and 3 (6%) had tonic-clonic seizures, and additionally, multifocal seizures, atonic seizures, atypical absence seizures and hypomotor seizures each appeared in 1 case (2%) respectively. The average number of antiepileptic drugs used was 1.9 + or - 0.86 (median 1). Among the 47 patients, 12 (26%) still had epileptic seizures and 33 (70%)were seizure-free, and 4% were dead. Three cases underwent surgery and continued to receive medication after surgery. The three patients were seizure-free in a 1.5 years follow-up. Among the 30 children over 7 years old, 17 cases (57%) were enrolled in ordinary schools, 3 cases (10%) in special schools and the other 10 cases were off-school for disabilities of intelligence and speech. The non-conditional logistic regression showed that the age of onset (RR=1.8, 95% CI 1.0- 3.2, P=0.050), administration of multiple antiepileptic drugs (RR=4.8, 95% CI 1.2-18.6, P=0.024), tonic seizures (RR=0.003, 95% CI 0.0- 0.2, P=0.04) and sex (RR=0.016, 95% CI 0.0-0.5, P=0.017) were risk factors for intractable seizures. CONCLUSIONS: The majority (70%) of children with TSC complicated by epilepsy can be seizure-free with suitable treatment. The risk factors of poor outcome in seizure control may involve in the early onset age, tonic seizures and the administration for multiple anti-epileptic drugs.