Review
Neurosciences
Wanqi Wang, Wayne N. Frankel
Summary: This study examines the current state of mouse genetic models in Developmental and Epileptic Encephalopathy (DEE) research, highlighting the need for further investigation and lessons learned to maximize the potential of this resource.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Clinical Neurology
Lara Jehi, Kees Braun
Summary: Various factors, including etiology and histopathology, play crucial roles in determining the outcomes of epilepsy surgery. This review aims to investigate the relationship between etiology and surgical outcomes, while exploring possible explanatory mechanisms.
Article
Biology
Genchang Peng, Mehrdad Nourani, Hina Dave, Jay Harvey
Summary: In this study, a methodology was proposed to analyze stereoelectroencephalography and assist with surgical decisions for focal epilepsy patients. The proposed seizure network model characterized the spatial distribution and temporal changes of ictal events, and a clustering strategy was employed to identify the target surgical areas. The results showed promising consistency between the recommendations of this method, clinical decisions, and surgery outcomes.
COMPUTERS IN BIOLOGY AND MEDICINE
(2023)
Article
Pediatrics
Sepideh Gholami Yarahmadi, Saeid Morovvati
Summary: Early infantile epileptic encephalopathy (EIEE) is a severe form of epilepsy characterized by seizures or spasms in infancy. This case report describes the clinical and molecular features of three patients affected with EIEE50 caused by mutations in the CAD gene. Whole-exome sequencing identified a novel likely pathogenic mutation in the CAD gene, which was found in heterozygous states in the asymptomatic parents and in a homozygous state in the affected newborn son. This mutation has not been reported previously and is predicted to have detrimental effects on the gene.
Article
Pharmacology & Pharmacy
Laura Monni, Larissa Kraus, Matthias Dipper-Wawra, Patricio Soares-da-Silva, Nikolaus Maier, Dietmar Schmitz, Martin Holtkamp, Pawel Fidzinski
Summary: This study investigated the effects of eslicarbazepine acetate (ESL) in a mouse model of KCNQ2-related diseases. The results showed that S-Lic could modulate hippocampal oscillations and block epileptic activity, and ESL displayed dose-dependent protection against seizures in both genotypes.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Clinical Neurology
Lauren E. Bleakley, Chaseley E. McKenzie, Christopher A. Reid
Summary: The acquisition of drug-sensitivity profiles in rare epilepsies is challenging. However, using a mouse model that mimics the symptoms and behaviors observed in patients, researchers have found that antiseizure medications blocking sodium channels can exacerbate seizures in some cases, while sodium valproate may be effective for certain patients. This study provides insights into the pharmacosensitivity of gain-of-function HCN1 DEE in a clinical setting.
Article
Clinical Neurology
Adithya Sivaraju, Lawrence Hirsch, Nicolas Gaspard, Pue Farooque, Jason Gerrard, Yunshan Xu, Yanhong Deng, Eyiyemisi Damisah, Hal Blumenfeld, Dennis D. Spencer
Summary: This study aimed to identify predictors of resective surgery and subsequent seizure freedom following intracranial EEG monitoring for seizure-onset localization. The results showed that the presence of a lesional MRI, presurgical hypothesis suggesting temporal lobe onset, and a nondominant hemisphere implant were independent predictors of resection, and focal ICEEG onset and undergoing resection predicted absolute seizure freedom at the 5-year follow-up.
Editorial Material
Clinical Neurology
Nicola Specchio, Paolo Curatolo
Summary: Developmental encephalopathies, including intellectual disability and autistic spectrum disorder, are often associated with infant epilepsy. Epileptic encephalopathy is used to describe a presumed causal relationship between epilepsy and developmental delay. The development of developmental and epileptic encephalopathies may continue even when seizures are controlled, indicating a more complex relationship between these conditions.
Article
Multidisciplinary Sciences
Isa Dallmer-Zerbe, Nikola Jajcay, Jan Chvojka, Radek Janca, Petr Jezdik, Pavel Krsek, Petr Marusic, Premysl Jiruska, Jaroslav Hlinka
Summary: Current advances in epilepsy treatment aim to personalize and adjust treatment parameters to overcome patient heterogeneity. Computational modeling has been introduced as a diagnostic tool for predicting individual treatment outcomes. In this article, the Wendling model is used to automatically classify epileptic brain states and the results are validated against real data.
SCIENTIFIC REPORTS
(2023)
Article
Clinical Neurology
Marc Zanello, Alexandre Roux, Gilles Zah-Bi, Benedicte Trancart, Eduardo Parraga, Myriam Edjlali, Arnault Tauziede-Espariat, Xavier Sauvageon, Tarek Sharshar, Catherine Oppenheim, Pascale Varlet, Edouard Dezamis, Johan Pallud
Summary: Functional-based resection under awake conditions has a low rate of intraoperative and early postoperative seizures, with good seizure outcomes at 6 months and 2 years postoperatively. Factors like treatment time of at least 3 months postoperatively, frontal lobe involvement, intraoperative current intensity, and supratotal resection are independently associated with early postoperative seizures.
JOURNAL OF NEUROSURGERY
(2021)
Article
Mathematics, Applied
Gerold Baier, Liyuan Zhang, Qingyun Wang, Friederike Moeller
Summary: This study proposes a workflow to quantitatively extract the nodes and edges contributing to seizure onset, while also considering the interrelationships between channels. It quantifies the contribution of EEG channels to seizure onset using across-seizure scoring, and demonstrates the consistency of channel contributions within a patient. This offers a new approach for presurgical monitoring in epilepsy.
Review
Biochemistry & Molecular Biology
Carlotta Spagnoli, Carlo Fusco, Antonio Percesepe, Vincenzo Leuzzi, Francesco Pisani
Summary: Despite advancements in next generation sequencing technologies and increased clinical interest in complex neurological phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE with development of an MD have been less extensively studied in the neonatal period compared to infancy. High genetic heterogeneity and low numbers of described patients were found in this review, with complex neurological phenotypes reflecting the involvement of genes crucial for early brain development. Future studies should focus on accurate neonatal epileptic phenotyping and detailed description of semiology and time-course of the associated movement disorders, especially for the rarest conditions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Anne T. Berg, Sonal Mahida, Annapurna Poduri
Summary: Children with KCNQ2-associated developmental and epileptic encephalopathies (DEE) often have well-controlled seizures but still suffer from severe functional impairments.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Neurosciences
Junling Wang, Bin Jing, Ru Liu, Donghong Li, Wei Wang, Jiaoyang Wang, Jianfeng Lei, Yue Xing, Jiaqing Yan, Horace H. Loh, Guangming Lu, Xiaofeng Yang
Summary: This study demonstrated the potential of simultaneous EEG-fMRI recording as a noninvasive clinical diagnostic technique for localizing the EZ or SOZ. The results showed a high spatial consistency between BOLD responses and the SOZ, indicating its effectiveness in mapping epileptic networks.
Article
Clinical Neurology
Julia Makhalova, Samuel Medina Villalon, Huifang Wang, Bernard Giusiano, Marmaduke Woodman, Christian Benar, Maxime Guye, Viktor Jirsa, Fabrice Bartolomei
Summary: The virtual epileptic patient (VEP) is a brain modeling method based on virtual brain technology and computational neuronal model, which can simulate a patient's seizures. It has the potential to be used in the presurgical evaluation of drug-resistant epilepsy by identifying the regions most likely to generate seizures. In a retrospective study involving 53 patients with pharmacoresistant epilepsy, VEP showed good precision in detecting epileptogenic regions and a higher concordance with clinical results in seizure-free patients. However, further development and analysis of the model are needed to fully exploit its potential impact on improving surgical prognosis.
Article
Clinical Neurology
Ara Ko, Nam Suk Sim, Han Som Choi, Donghwa Yang, Se Hee Kim, Joon Soo Lee, Dong Seok Kim, Jeong Ho Lee, Heung Dong Kim, Hoon-Chul Kang
Summary: This study aimed to evaluate the efficacy of the ketogenic diet (KD) in patients with focal cortical dysplasia (FCD) and mTOR pathway dysregulation. The results showed that patients with mTOR pathway mutations had a better response to the KD, although the difference in efficacy compared to patients without mTOR pathway mutations was not statistically significant.
JOURNAL OF CLINICAL NEUROLOGY
(2022)
Article
Clinical Neurology
So Hee Park, In-Ho Jung, Kyung Won Chang, Maeng Keun Oh, Jin Woo Chang, Se Hee Kim, Hoon-Chul Kang, Heung Dong Kim, Won Seok Chang
Summary: This study described the surgical technique of epidural grid monitoring (EDG) in invasive intracranial electroencephalography (iEEG) monitoring and compared it with subdural grid monitoring (SDG). The results showed that although there were no significant differences in craniotomy and electrode insertion between the two groups, the EDG group had fewer postoperative headaches and nausea, and the quality of the electrophysiological signal received through the electrode was comparable to that of SDG. Therefore, EDG has the sufficient potential to replace SDG for monitoring of the lateral surface of the brain.
Article
Nursing
Won-Oak Oh, Kyu Won Shim, In-Sun Yeom, Il Tae Park, Yoo Jin Heo, Jihee Han
Summary: This study aimed to identify the risk and protective factors affecting a sense of salutogenic health in adolescents with Moyamoya disease. The results revealed that risk factors were closely related to relationships with friends, parents, and academic work, while protective factors included emotional support, positive attitudes, abilities, and resource development.
INTERNATIONAL JOURNAL OF NURSING PRACTICE
(2023)
Article
Cell & Tissue Engineering
Eul Sik Jung, Ji Hun Kim, Mi-Yoon Chang, Wonjun Hong, Zhejiu Quan, Seung Hyun Kim, Seungkwon You, Dae-Sung Kim, Jiho Jang, Sang-Hun Lee, Hyongbum Henry Kim, Hoon Chul Kang
Summary: This study successfully performed genome editing on X-linked adrenoleukodystrophy (ALD) patient-derived iPSCs using homology-directed repair (HDR), correcting the mutation site. The edited iPSCs showed normal pluripotency marker expression, suggesting their potential use in research on the pathophysiology and therapeutics of ALD.
STEM CELL RESEARCH
(2022)
Article
Clinical Neurology
Ju Yun Nam, Lip-Yuen Teng, Kyoun Cho, Hoon-Chul Kang, Joon Soo Lee, Heung Dong Kim, Se Hee Kim
Summary: This study aimed to investigate the effects of ketogenic diet (KD) and modified Atkins diet (MAD) on patients with epileptic encephalopathy caused by the STXBP1 gene mutation. The results showed that dietary therapy was highly effective, especially for patients with later onset.
Article
Clinical Neurology
Zhi Ji Wang, Byoung Ho Noh, Eun Seong Kim, Donghwa Yang, Shan Yang, Nam Young Kim, Yun Jung Hur, Heung Dong Kim
Summary: This study used brain network analysis to investigate potential biomarkers for the diagnosis of epileptogenic zone (EZ) in pediatric patients with focal cortical dysplasia (FCD) type II. The results showed that clustering coefficient, local efficiency, node out-degree, and node out-strength were the most reliable biomarkers for delineating the EZ.
FRONTIERS IN NEUROLOGY
(2022)
Article
Nutrition & Dietetics
Myeongseob Lee, Hae In Lee, Kyungchul Song, Han Saem Choi, Junghwan Suh, Se Hee Kim, Hyun Wook Chae, Hoon-Chul Kang, Joon Soo Lee, Heung Dong Kim, Ho-Seong Kim, Ahreum Kwon
Summary: This study aimed to evaluate the dose-dependent association between vitamin D-3 and hypercalciuria/urolithiasis in patients undergoing KDT and dose optimization for renal complications.
FRONTIERS IN NUTRITION
(2022)
Article
Virology
Se Hee Kim, Jee Yeon Baek, Minkyung Han, Myeongjee Lee, Sung Min Lim, Ji Young Lee, Ji-Man Kang, Inkyung Jung, Hoon-Chul Kang, Jong Gyun Ahn
Summary: During the COVID-19 pandemic, the incidence of encephalitis decreased significantly in South Korea, especially among children aged ≤9 years. There were also changes in the clinical outcomes of encephalitis during the pandemic.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Article
Medicine, General & Internal
Soyoung Ryu, Hoon-Chul Kang, Sung Chul Lee, Suk Ho Byeon, Sung Soo Kim, Christopher Seungkyu Lee
Summary: The purpose of this study was to examine refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population. A total of 98 TSC patients were enrolled in a retrospective cohort study. The findings showed that TSC1 variant patients were more myopic, while TSC2 variant patients showed association with more extensive involvement of retinal astrocytic hamartoma.
YONSEI MEDICAL JOURNAL
(2023)
Article
Genetics & Heredity
Jeehyun Kim, Lip-Yuen Teng, Bilal Shaker, Dokyun Na, Hyun Yong Koh, Soon Sung Kwon, Joon Soo Lee, Heung Dong Kim, Hoon-Chul Kang, Se Hee Kim
Summary: This study found that variants in the DNM1 gene can cause a wide range of epileptic and neurodevelopmental disorders. The phenotypes associated with these variants include typical epileptic spasms and intellectual disability, as well as milder cognitive impairment and focal epilepsy. Different variants also result in varying severity and functional levels.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Clinical Neurology
Eun-Kyung Park, Ja-Yoon Kim, Dong-Seok Kim, Kyu-Won Shim
Summary: Post-hemorrhagic hydrocephalus (PHH) in preterm infants is common and life-threatening, resulting in bad developmental outcomes. Ventriculoperitoneal (VP) shunt is used as the ultimate treatment for PHH. The most important prognostic factor for VP shunting is age, but low birth weight and low gestational age also contribute to worse prognosis. Early and aggressive intervention can effectively control intraventricular hemorrhage and intracranial pressures, reducing the risk of infection and brain damage. Allowing PHH infants to mature and gain weight before undergoing VP shunt is crucial to reduce shunt-related complications.
JOURNAL OF KOREAN NEUROSURGICAL SOCIETY
(2023)
Article
Medicine, General & Internal
Jun Kyu Hwang, Eun Kyung Park, Kyu-Won Shim, Dong-Seok Kim
Summary: This study aimed to analyze the effect of foramen magnum decompression with C1 laminectomy (C1L) for Chiari malformation type 1 (CM-1) in terms of improving clinical symptoms, expanding posterior fossa volume, and decreasing syrinx volume. The results showed that C1L can effectively increase posterior fossa volume, and combining C1L with duraplasty can result in a faster decrease in syrinx volume.
YONSEI MEDICAL JOURNAL
(2023)
