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Contralateral hippocampal sclerosis following functional hemispherectomy in children: A report of three cases
: Hippocampal Sclerosis (HS) may co-exist with temporal or extratemporal lesions (dual pathology) in children and is usually ipsilateral to the radiological lesion. Here were report three cases with extensive hemispheric cortical malformation and drug resistant epilepsy who had persistent seizures after functional hemispherectomy (FH) and developed contralateral HS after the surgery. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - August 19, 2023 Category: Neurology Authors: Ranjith Kumar Manokaran, Ivanna Yau, Robyn Whitney, Ayako Ochi, Hiroshi Otsubo, Elysa Widjaja, George M Ibrahim, Elizabeth J Donner, Puneet Jain Source Type: research

NEXMIF variants are associated with epilepsy with or without intellectual disability
The NEXMIF gene (OMIM* 300524), residing on Xq13.3, encodes a neurite extension and migration factor (NEXMIF) protein. It is highly expressed in the cerebral cortex and plays vital roles in neurite outgrowth by regulating cell-cell adhesion[1]. Nexmif hemizygous knockout mice exhibited spontaneous seizures, autism-like behavior, and intellectual disability (ID)[2]. Previsouly, NEXMIF null variants were reported to be associated with X-linked intellectual developmental disorder 98 (XLID98, OMIM# 300912), a severe neurodevelopment disorder syndrome characterized by delayed psychomotor development, poor speech, behavioral abn...
Source: Seizure: European Journal of Epilepsy - August 18, 2023 Category: Neurology Authors: Zi-Long Ye, Hong-Jun Yan, Qing-Hui Guo, Shu-Qian Zhang, Sheng Luo, Ya-Jun Lian, Yun-Qing Ma, Xin-Guo Lu, Xiao-Rong Liu, Nan-Xiang Shen, Liang-Di Gao, Zheng Chen, Yi-Wu Shi Source Type: research

How valid are proxy assessment of mental health and sleep comorbidities of patients with epilepsy using standardized questionnaires?
In healthcare, medical information should ideally be assessed directly with the patient. However, sometimes this is impossible, for example, when assessing subjective data such as health-related quality of life of very young children or in patients with dementia or with major intellectual disability. This can also be challenging when assessing psychiatric diagnoses that require thorough interview. For such cases, information from a proxy respondents can be valuable[1]. This is particularly true in the case of Sudden Unexpected Death in Epilepsy (SUDEP). (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - August 18, 2023 Category: Neurology Authors: Chris Serrand, Marie Faucani é, Audrey Jaussent, Arielle Crespel, Marie Denuelle, Fabrice Bartolomei, Laurent Verceuil, Philippe Derambure, Louise Tyvaert, Cécile Marchal, Elisabeth Landre, William Szurhaj, Thibault Mura, Vincent Navarro, Sylvain Rheims Source Type: research

National audit of pathways in epileptic seizure referrals (NAPIER): a national, multicentre audit of first seizure clinics throughout the UK and Ireland
The diagnosis and management of suspected first seizures poses an important clinical challenge. A first seizure may signal the onset of new epilepsy, previously undiagnosed epilepsy, or a focal brain lesion. They may also represent important differentials such as psychogenic seizures. Following a single unprovoked seizure, the risk of recurrence is greatest in the first 3-6 months, prompting the development of national guidelines setting standards of care (1 –3). The National Institute of Health and Care Excellence (NICE) have set recommendations for suspected first seizures and new epilepsy to be assessed within two wee...
Source: Seizure: European Journal of Epilepsy - August 18, 2023 Category: Neurology Authors: Seong Hoon Lee, Conor Gillespie, Soham Bandyopadhyay, Armin Nazari, Setthasorn Zhi Yang Ooi, Jay Jaemin Park, Claire Champ, Claire Taylor, Michael Kinney, Graham Mackay, Phyo Kyaw Myint, Anthony Marson, NANSIG Collaborative Source Type: research

Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders
The APC2 gene (OMIM *612034, also known as APCL) is widely expressed in the brain, predominantly in the cortex and hippocampus. It encodes adenomatous polyposis coli protein-2 (APC2), primarily distributed along actin fibers and microtubules throughout the neurites, growth cones, and cell bodies [1]. As involved in promoting microtubule dynamics and controlling dendritic development [1,2], APC2 plays an important role in regulating neuronal migration and axon guidance. In mice, homozygous knock-out of Apc2 caused impaired neuronal migration, growth retardation, and resulted in seizure behaviors [3], suggesting pathogenic r...
Source: Seizure: European Journal of Epilepsy - August 17, 2023 Category: Neurology Authors: Liang Jin, Yun Li, Sheng Luo, Qian Peng, Qiong-Xiang Zhai, Jin-Xia Zhai, Liang-Di Gao, Jia-Jun Guo, Wang Song, Yong-Hong Yi, Na He, Yong-Jun Chen Source Type: research

De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review
The PHF21A gene is an important gene within the 11p11.2 region that encodes PHD finger protein 21A, which mediates the repression of neuron-specific genes through the cis-regulatory element repressor element-1 (RE1) or neural restrictive silencer (NRS) [1]. One study showed that the injection of zebrafish embryos with morpholinos against the PHF21A gene resulted in both neuronal apoptosis and craniofacial abnormalities. In addition, the study identified 3 patients with balanced translocations disrupting the PHF21A gene. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - August 17, 2023 Category: Neurology Authors: Hui Chen, Yong Chen, Huaping Wu, Xiaolu Qiu, Xiongying Yu, Ruiyan Wang, Jianmin Zhong, Jing Peng Tags: Review Source Type: research

Variation in Functional Networks between Clinical and Subclinical Discharges in Childhood Absence Epilepsy: A Multi-frequency MEG Study
Childhood absence epilepsy (CAE), a benign form characterized by loss of consciousness, accounts for 10 –17% of all childhood epilepsies [1]. Absence seizures usually last 5–30 s and cannot be recalled afterward. During these seizures, symmetrical and extensive spike-and-wave discharges (SWDs) of 3–4 Hz across the brain can be captured by electroencephalogram (EEG) [2–4]. Frequent seizure epis odes can cause behavioral, cognitive, and language impairment in children with CAE and even jeopardize their safety [4–6]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - August 15, 2023 Category: Neurology Authors: Fangling Sun, Yingfan Wang, Yihan Li, Yanzhang Li, Siyi Wang, Fengyuan Xu, Xiaoshan Wang Source Type: research

In Reply: Why Big Data Carries Big Potential Rather Than Big Trouble
In a recent editorial “Big Data – Big Trouble: The two faces of publishing results from big data studies based on cohorts with poor clinical definition” published in Seizure 2023; 111:21–2 [1], von Wrede, Witt, and Helmstaedter expressed their concerns about “big-data” epidemiological investigations that are increasingly being published within epilepsy research. Their concerns relate to the potential for misinterpretation of evidence from epidemiological studies by media, lays, and even health care professionals and criticise big-data studies for lacking credibility and having unclear implications for c linical...
Source: Seizure: European Journal of Epilepsy - August 13, 2023 Category: Neurology Authors: Julie Werenberg Dreier, Marte-Helene Bj ørk, Silje Alvestad, Mika Gissler, Jannicke Igland, Maarit K Leinonen, Yuelian Sun, Helga Zoega, Jacqueline M. Cohen, Kari Furu, Torbjörn Tomson, Jakob Christensen Tags: Letter to the editor Source Type: research

Heterozygous RELN Missense Variants Associated with Genetic Generalized Epilepsy
Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, comprise a broad group of genetically determined epileptic syndromes in approximately a quarter of epilepsies [1]. Based on the main seizure types and age at onset, the four common GGE syndromes are juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), childhood absence epilepsy (CAE), and epilepsy with generalized tonic-clonic seizures alone (EGTCS). Previous twin studies and pedigree analyses have demonstrated the high heritability of GGE [2,3]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - August 11, 2023 Category: Neurology Authors: Xiaoling Wu, Shaoping Zhong, Yang Cai, Yuling Yang, Yangye Lian, Jing Ding, Xin Wang Source Type: research

ATP6V1A variants are associated with childhood epilepsy with favorable outcome
The ATPase H+ transporting V1 subunit A gene (ATP6V1A; MIM: 607027), which resides on chromosomal locus 3q13.31, is predominantly expressed in the brain especially in frontal cortex, hypothalamus, and hippocampus (https://www.gtexportal.org/home/gene/ATP6V1A). It encodes a 69kDa V-type proton ATPase catalytic subunit A (ATP6V1A) that is primarily distributed at cytoplasm membrane, cytoplasmic vesicles, and lysosomes [1 –4]. The ATP6V1A protein is the A-subunit of the V1 domain of the vacuolar-ATPase (V-ATPase), which plays a critical role in pH homeostasis, intracellular signaling pathways, neurotransmitter release, neur...
Source: Seizure: European Journal of Epilepsy - August 9, 2023 Category: Neurology Authors: Bin Li, Song Lan, Xiao-Rong Liu, Jing-Jing Ji, Yun-Yan He, Dong-Ming Zhang, Jie Xu, Hui Sun, Zhen Shi, Jie Wang, Yang Tian Source Type: research

More extensive structural damage in temporal lobe epilepsy with hippocampal sclerosis type 1
Mesial temporal lobe epilepsy (mTLE) is the most common medically intractable but surgically remediable epilepsy in adults, with a characteristic seizure semiology and unilateral EEG onset. [1,2] The hippocampus is commonly regarded as the seizure focus in mTLE, with widespread cortical and subcortical regions involved. [3,4] As the most established therapeutic procedure for refractory mTLE, anterior temporal lobectomy (ATL) resects the hippocampus and adjacent mesial temporal structures, offering a favorable seizure-freedom rate of 60-70%. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - August 7, 2023 Category: Neurology Authors: Wei Li, Yuchao Jiang, Xiuli Li, Huan Huang, Du Lei, Jinmei Li, Heng Zhang, Dezhong Yao, Cheng Luo, Qiyong Gong, Dong Zhou, Dongmei An Source Type: research

The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant
Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is the protein responsible for the first step in the biosynthesis of glycophosphatidylinositol (GPI)-anchored proteins, and a germline PIGA variant is one of the causative genes of inherited GPI deficiency [1]. Epileptic seizures, developmental delay, intellectual disability, and multiple malformations are common symptoms of patients with PIGA variant, with a high frequency of severe phenotype and a high mortality rate [2]. The majority of epilepsies in the PIGA variant have an early onset during infancy, and seizures are drug-resistant. (Source: Seizure: Euro...
Source: Seizure: European Journal of Epilepsy - August 7, 2023 Category: Neurology Authors: Azusa Ikeda, Hiroyuki Nagafuchi, Yumi Enomoto, Kenji Kurosawa, Yu Tsuyusaki, Megumi Tsuji, Tomohide Goto Tags: Clinical letter Source Type: research

Potential Biases in the Randomized Control Study of Progressive Muscle Relaxation Exercises for Epilepsy
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Source: Seizure: European Journal of Epilepsy - August 6, 2023 Category: Neurology Authors: Ryoichi Inoue, Takato Akiba, Takafumi Kubota Source Type: research

Felt stigma proportion in people living with epilepsy: a systematic review
Stigma is characterized as an attribute that profoundly discredits an individual. It encompasses the notion that someone deviates from what society expects. For many people living with epilepsy (PLWE), this stigma poses a considerable challenge [1]. Stigma related to epilepsy can be categorized as felt stigma (FS) and enacted stigma. FS includes anticipating negative views from others and internalizing these views, leading to self-stigmatization. Enacted stigma refers to actual discrimination based on a person's condition [2]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - August 2, 2023 Category: Neurology Authors: Tae-Won Yang, Young-Soo Kim, Do-Hyung Kim, Jung Sook Yeom, Oh-Young Kwon Source Type: research

Cenobamate in patients with highly refractory focal epilepsy: a retrospective real-world study
Epilepsy is a disease characterized by a predisposition to epileptic seizures, with neurobiological, cognitive, psychological and social consequences [1,2]. Refractory or drug-resistant epilepsy is characterized by the persistence of seizures despite two antiseizure medications (ASM) used adequately and at an appropriate dose, either sequentially in monotherapy or in combination [3]. Different grades of resistance have been suggested in the literature depending on the number of previous ASM failures: grade I, after two failures, grade II, after three to five failures, and grade III, after six or more failures [4]. (Source:...
Source: Seizure: European Journal of Epilepsy - August 1, 2023 Category: Neurology Authors: Álvaro Beltrán-Corbellini, María Romeral-Jiménez, Pablo Mayo, Irene Sánchez-Miranda, Pablo Iruzubieta, Juan Luis Chico-García, Paloma Parra-Díaz, Irene García-Morales, Rafael Toledano, Ángel Aledo-Serrano, Antonio Gil-Nagel Source Type: research