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Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates
In neonates, most seizures are attributable to acquired non-genetic causes, including hypoxic-ischemic encephalopathy (HIE), vascular events or infectious diseases. A considerable subgroup, however, has a genetic basis. Many epilepsy-related genes encode ion channels, and epilepsies caused by pathogenic variants in this group are often referred to as channelopathies.[1 –3] Many of the channelopathies-related epilepsies are associated with defects of voltage-gated sodium, potassium or calcium channels. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 22, 2023 Category: Neurology Authors: Judith A. Pijpers, Ping Yee Billie Au, Lauren Weeke, Alla A. Vein, Liesbeth Smit, Ana Vilan, Elke Jacobs, Linda S. de Vries, Sylke J. Steggerda, Maria Roberta Cilio, Evelina Carapancea, Marie-Coralie Cornet, Juan P. Appendino, Cacha M.P.C.D. Peeters-Schol Source Type: research

SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders
SCAF4 is located at the chromosome locus 21q22.11, spans approximately 61kb of genomic DNA, and encodes serine/arginine-related carboxyl-terminal domain (CTD) -associated factor 4. Nine transcriptional variants have been described. Transcript 1 (NM_020706.2) consists of 20 exons, encoding 1147 amino acids, including a CTD-interacting domain (CID) and RNA-recognition motif (RRM) domain [1]. SCAF4 inhibits transcriptional reading [2]. Moreover, in combination with SCAF8, it inhibits the recognition of early alternative poly(A) sites, thereby preventing excessive production of nonfunctional truncated proteins [3]. (Source: Se...
Source: Seizure: European Journal of Epilepsy - June 21, 2023 Category: Neurology Authors: Heng Lin, Yan-Hui Chen Source Type: research

The Genetic Landscape of Developmental and Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep
In 2022 the International League Against Epilepsy (ILAE) defined developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep (EE-SWAS) as a spectrum of conditions that are characterized by various combinations of cognitive, language, behavioral and motor regression associated with marked spike-and-wave activation in sleep. This terminology replaces syndromes previously named Epileptic Encephalopathy with Continuous Spike-and-Wave in Sleep (EE-CSWS), Electrical Status Epilepticus in Sleep (ESES), Atypical Benign Partial Ep...
Source: Seizure: European Journal of Epilepsy - June 19, 2023 Category: Neurology Authors: Alexander E. Freibauer, Rajesh RamachandranNair, Puneet Jain, Kevin C. Jones, Robyn Whitney Source Type: research

Acetazolamide responsive early-onset absence epilepsy and ataxia in a toddler with a KCNA2 genetic variant; a case report
Genetic variants in KCNA2 (potassium voltage-gated channel subfamily A member 2) have been associated with a spectrum of symptoms such as epileptic encephalopathy, myoclonic seizures, intellectual disability, and cerebellar ataxia [1,2]. Individuals with KCNA2 gain-of-function genetic variants could benefit from tailored-treatment regimens [1,3]. Here, we report a 2-year-old boy with early-onset drug refractory absence seizures and gait ataxia. The clinical exome sequencing revealed a gain-of-function genetic variant in the KCNA2 gene. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 18, 2023 Category: Neurology Authors: Neetha Balaram, James Jose, Abdul Gafoor, Smita Balachandran, Francis Saritha, Kalarickal Vijayan Dileep, Shabeesh Balan Source Type: research

Helping patients with epilepsy during a full-scale war in the country: Some aspects of Ukrainian experience
On February 24, 2022, the troops of the Russian Federation launched a full-scale invasion of the territory of Ukraine. The health care system has suffered the damage and destruction of medical care facilities, medical supply systems, and logistics. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 18, 2023 Category: Neurology Authors: Andriy Dubenko, Tetyana Litovchenko Tags: Editorial Source Type: research

Editorial Board
(Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 17, 2023 Category: Neurology Source Type: research

First add-on lacosamide treatment in children with focal epilepsy in China: A multi-centre real-life cohort study
LCM was effective as the first add-on therapy in this real-life multi-centre study of a paediatric population with focal epilepsy. Further prospective studies with long-term follow-up periods are needed to confirm the effectiveness and tolerability of LCM. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 16, 2023 Category: Neurology Authors: Wenyu Liu, Hesheng Zhang, Peiyu Wang, Enhui Zhang, Xintong Wu, Dong Zhou Source Type: research

Withdrawal of Antiseizure Medications After MRI –Guided Laser Interstitial Thermal Therapy in Extra-Temporal Lobe Epilepsy
Stereotactic magnetic resonance imaging (MRI) –guided laser interstitial thermal therapy (MRg-LITT) is established as an effective alternative to open resections for the surgical management of medication refractory epilepsy.[1] In mesial temporal lobe epilepsy (MTLE), studies have demonstrated comparative rates of seizure freedom between open resection procedures such as anterior temporal lobectomy (ATL) or selective amygdalo-hippocampectomy (SAH), and stereotactic laser amygdalohippocampotomy (SLAH) (67-75% vs 50-66% respectively). (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 13, 2023 Category: Neurology Authors: Arjun Athreya, Rebecca E. Matthews, Daniel L. Drane, Leonardo Bonilha, Jon T. Willie, Robert E. Gross, Ioannis Karakis Source Type: research

Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes
Developmental and epileptic encephalopathies (DEEs) comprise a group of rare neurodevelopmental disorders that are characterized by early-onset, frequent, refractory seizures associated with significant developmental delay or impairment in developmental skills [1]. Unfortunately, comorbidities are frequently associated with DEEs, including autism spectrum disorder, attention deficit hyperactivity disorder, and behavioral and movement disorders [2]. West Syndrome, Lennox- Gastaut syndrome, and Ohtahara syndrome are the most common types of DEEs which show almost specific distinct phenotypes, however, a considerable number o...
Source: Seizure: European Journal of Epilepsy - June 12, 2023 Category: Neurology Authors: Özlem Yalçın Çapan, Zuhal Yapıcı, Mehmet Özbil, Hande S. Çağlayan Source Type: research

Psychiatric comorbidity in relation to clinical characteristics of epilepsy: A retrospective observational study
The epidemiological link between epilepsy and psychiatric disease is well established. Virtually all psychiatric disorders are more common in people with epilepsy than in those without. A recent review based on meta-analyses of population-based studies, affirms that people with epilepsy are burdened by a high prevalence of the major psychiatric disorders, including depression (23%), anxiety (20%) and psychosis (5-7%) [1]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 12, 2023 Category: Neurology Authors: Eline Revdal, Bj ørn Patrick Kolstad, Bendik Slagsvold Winsvold, Kaja Kristine Selmer, Gunnar Morken, Eylert Brodtkorb Source Type: research

Epilepsy-related mortality during the COVID-19 pandemic: a nationwide study of routine Scottish data
Epilepsy contributes to a substantial proportion of the global burden of neurological disease, affecting 50 –70 million people wordwide. [1,2] In the United Kingdom (UK) alone, seizures are the most common neurological cause of unscheduled hospital admissions. [3] People with epilepsy (PWE) are at significantly increased risk of premature death. [4–8] Some of those deaths may be entirely unrelated to their epilepsy, [5,9] for example in an assault or a pulmonary embolism. In such cases, the epilepsy is not mentioned anywhere on the death certificate, in line with national death certification guidance. (Source: Seizure:...
Source: Seizure: European Journal of Epilepsy - June 11, 2023 Category: Neurology Authors: Gashirai K Mbizvo, Christian Schnier, Julie Ramsay, Susan E Duncan, Richard FM Chin Source Type: research

Investigation of FRMPD4 variants associated with X-linked epilepsy
FRMPD4 is expressed throughout the lifespan, including the fetal, juvenile, and adult stages. In humans, FRMPD4 is highly expressed in the brain [1]. FRMPD4 knockout in mice results in deficits in hippocampus-dependent spatial learning and memory, indicating that FRMPD4 is essential for the normal development of the central nervous system. However, little is known regarding the association between FRMPD4 and epilepsy. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 10, 2023 Category: Neurology Authors: Ren-Ke Li, Huan Li, Mao-Qiang Tian, Yun Li, Sheng Luo, Xiao- Yu Liang, Wen-Hui Liu, Bin-Mei Li, Xiao-Qi Shi, Juan Li, Bin Li, Xiao-Mei Shu, China Epilepsy Gene 1.0 Project Source Type: research

Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B
MicroRNAs (miRNAs) are small non-coding RNAs transcribed from independent miRNA genes that regulate gene expression in normal and pathological cellular processes. The TNRC6B gene (trinucleotide repeat containing 6 B, *610740) encodes a protein required to mediate translational inhibition by miRNA-guided mRNA cleavage [1]. This protein is associated with the Argonaute (Ago) family of proteins in the cytoplasm of the RNA-induced silencing complex (RISC), which leads to translational repression or mRNA degradation [1]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 10, 2023 Category: Neurology Authors: Sara Bellido-Cu éllar, Rubén Pérez de la Fuente, José Miguel Lezana-Rosales, Maria Teresa Sánchez-Calvín, Rosa Ana Saiz-Díaz, Jesús González de la Aleja Source Type: research

Early predictors of remission in children and adolescents with new-onset epilepsy: a prospective study
It is well established that despite the availability of numerous novel antiseizure medications (ASMs), one third of children with new-onset seizures will not achieve seizure remission [1 –3]. These children endure the physical, psychological and social consequences of intractable seizures and face an elevated risk of death [4,5]. Despite its clinical importance, the early prediction of treatment outcome remains a major challenge [6], with only a limited number of large, community- based, long-term studies evaluating early predictors of medical refractoriness in childhood epilepsy [7–9]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - June 9, 2023 Category: Neurology Authors: Dana Ayoub, Amal Al-Hajje, Pascale Salameh, Jeremy Jost, Ghassan Hmaimess, Wassim Nasreddine, Fatima Jaafar, Jaafar Wazne, Ribal Bitar, Sandra Sabbagh, Farid Boumediene, Ahmad Beydoun Source Type: research

Case Analysis of Epilepsy, Neurodevelopmental Disorder, and Motor Disorders Associated with Mutations in the Dehydrodolichyl Diphosphate Synthase Gene
Epilepsy is one of the most prevalent and disabling chronic neurological diseases worldwide. Each year, 125,000 out of 60 million patients all over the world die due to epilepsy [1]. It is characterized by abnormal electrical activity leading to seizures or abnormal behavior and sensation, and sometimes loss of consciousness. It can lead to a series of neurological, cognitive, psychological, and social consequences. Epilepsy accounts for a large proportion of the deaths caused by diseases, as the risk of premature death in patients with epilepsy is three times higher than that of the general population [2]. (Source: Seizur...
Source: Seizure: European Journal of Epilepsy - June 8, 2023 Category: Neurology Authors: Ting Lv, Jun-Xian Fu, Xiao-Yang Liu, Rong Tang, Guang-Lu Yang Source Type: research