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Clinical characteristics, seizure control, and delivery outcomes in pregnant women with focal and generalized epilepsies.
Epilepsy is a common chronic neurological disorder estimated to affect between 0.3% and 0.5% of all pregnancies worldwide [1]. Compared with healthy pregnant women, women with epilepsy (WWE) may have an increased risk of preeclampsia, placental abruption, premature rupture of membranes (PROM), cesarean section (CS), intrauterine growth retardation, a low Apgar score, congenital malformations, and developmental retardation [2 –11]. Notably, maternal seizures in pregnancy have been reported to be significantly associated with an increased rate of maternal mortality, preterm risk, a shorter gestational age, fetal growth res...
Source: Seizure: European Journal of Epilepsy - January 26, 2024 Category: Neurology Authors: Dr. Melikova Shahla, Professor Mammadbayli Aytan Source Type: research

Ketamine in the treatment of refractory and super-refractory status epilepticus: experience from two centres.
Status epilepticus (SE) is a clinical situation resulting from the failure of mechanisms that terminate seizures and/or the onset of mechanisms that abnormally prolong seizures [1]. It is referred to as refractory SE (RSE) if it continues despite parenteral administration of an adequate dose of a benzodiazepine and an antiseizure drug (ASD), and super-RSE (SRSE) if it continues 24 hours after the start of treatment with anaesthetics [2]. SE progresses to RSE in 23%-48% of patients, and to SRSE in 22% [3]; both situations are associated with high morbidity and mortality [4]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 21, 2024 Category: Neurology Authors: Manuel Garc ía-Ruiz, Pablo Mayo Rodríguez, Luca Palliotti, Clara Lastras, María Romeral-Jiménez, Irene García Morales, Cándido Pardo Rey, Marc Rodrigo-Gisbert, Daniel Campos-Fernández, Estevo Santamarina, Beatriz Parejo Carbonell Source Type: research

A Rare Syndrome: Microcephaly, Diabetes Mellitus, and Epilepsy Due to Homozygous TRMT10A Mutation
Although the association of epilepsy and Diabetes Mellitus is usually coincidental, it can be seen especially in childhood with Type 1 Diabetes Mellitus in the presence of anti-glutamic acid decarboxylase antibodies [1]. However, in 2013, a new syndrome with short stature, microcephaly, intellectual disability and Diabetes Mellitus was defined and autosomal recessive transmission due to tRNA methyltransferase homologous A gene mutation (TRMT10A) was shown [2]. In this syndrome, which was described in the following years, it has been observed that additional findings such as epilepsy, delayed puberty, renal hypoplasia could...
Source: Seizure: European Journal of Epilepsy - January 18, 2024 Category: Neurology Authors: Firdevs Ezgi U çan Tokuç, Meltem Korucuk, Tarkan Kalkan, Fatma Genç Source Type: research

Impact of Copy Number Variants in Epilepsy plus neurodevelopment disorders
Epilepsy is a neurological disorder affecting 50 million people worldwide in which excessive neuronal excitability causes recurrent unprovoked seizures [1,2]. Genetic alterations are at the forefront of the primary causes of the disease etiology and the current estimate for the role of genetic causes is up to 70% [3]. Epilepsy is considered a heterogeneous group of disorders. Since one third of patients fail to respond adequately to treatment, understanding the genetic causes such as the presence of pathogenic copy number variants (CNVs) associated with epilepsy, should allow for better tailoring of therapeutic regimens [4...
Source: Seizure: European Journal of Epilepsy - January 18, 2024 Category: Neurology Authors: Sofia Jo ão, Rita Quental, Joel Pinto, Carolina Almeida, Helena Santos, Sofia Dória Source Type: research

ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic diet
Research has shown gene ATN1 to be associated with the nuclear receptor signaling. Its mutations in an evolutionarily conserved histidine-rich motif may cause CHEDDA, short for congenital hypotonia, epilepsy, developmental delay and digital anomalies, a recently identified neurodevelopmental syndrome that could evolve into developmental and epileptic encephalopathy (DEE). Up to date, there have been reported less than 20 cases, whose clinical features and treatment are worth in-depth exploring. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 18, 2024 Category: Neurology Authors: Yi Xie, Tangfeng Su, Yan Liu, Sanqing Xu Source Type: research

Efficacy and safety of perampanel as the first add-on therapy for children with epilepsy: a real-world multicenter prospective observational study
Epilepsy is characterized by highly synchronized abnormal discharge of neuron groups. It is the most common neurological disease in children, and according to the World Health Organization, there were ∼50 million epilepsy patients worldwide in 2019 [1,2]. Epidemiological investigations showed that the prevalence of epilepsy in China was about 7.0‰ [2,3]. Anti-seizure medications (ASMs) remain the preferred choice for epilepsy treatment. In 2000, Kwan and Brodie reported in their prospective s tudy that ∼47% of newly diagnosed epilepsy patients can achieve a seizure-free state with monotherapy [4]. (Source: Seizure: E...
Source: Seizure: European Journal of Epilepsy - January 15, 2024 Category: Neurology Authors: Jiahui Mai, Hua Li, Yinghui He, Tieshuan Huang, Caimei Lin, Song Lan, Xiaohua Xiao, Suli He, Xinguo Lu, Li Chen, Bing Li, Xufeng Luo, Han Wang, Jianxiang Liao, Dezhi Cao Source Type: research

Purified cannabidiol as add-on therapy in children with treatment-resistant infantile epileptic spasms syndrome
Infantile epileptic spasms syndrome (IESS) is the term currently used for West syndrome, characterized by the occurrence of epileptic spasms (ES) in clusters, associated with the pattern of hypsarrhythmia on the EEG and developmental stagnation or regression. In addition, cases that do not strictly fulfill these criteria and lack either the typical pattern of hypsarrhythmia or developmental involvement are included. IESS is typically observed in children under the age of 2, although onset at an older age may also occur [1]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 15, 2024 Category: Neurology Authors: Gabriela Reyes Valenzuela, Adolfo Gallo, Agustin Calvo, Santiago Chac ón, Lorena Fasulo, Santiago Galicchio, Javier Adi, Pablo Sebastian Fortini, Roberto Caraballo Source Type: research

Treatment Patterns in Women of Childbearing Age and Pregnant Women With Epilepsy in Poland between the years 2019 and 2022 - a nationwide population-based cohort study
Approximately 15 million women and girls of child-bearing age are living with epilepsy worldwide. To maintain optimal seizure control the majority of these women require treatment with antiseizure medications (ASMs) not only before conception but also throughout pregnancy and breastfeeding [1]. A growing body of evidence from observational studies and pregnancy registers has raised awareness regarding the potential teratogenic effects of ASMs [2]. The level of risk varies depending on the specific ASM. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 12, 2024 Category: Neurology Authors: Katarzyna W ójcik, Marcin Kruk, Beata Koń, Agnieszka Słowik, Magdalena Bosak Source Type: research

The changing incidence of childhood epilepsy in Finland
It is increasingly accepted that the incidence of epilepsy in childhood is in slow decline. However, there are recent population-based studies that show wide variation within and between countries. For example, investigators from Italy reported a rate of 31 per 100,000 children in 2014 [21] and 79 per 100,000 ([2] in 2019 while in Finland the rate varied from 38 [51] to 87 per 100,000 ([41]). Few studies have reported changes in the incidence of childhood epilepsy in the same population. A Danish study [10] and a Finnish study ([41]) found an increase in incidence until the 1990s, but also suggested a deceasing incidence s...
Source: Seizure: European Journal of Epilepsy - January 12, 2024 Category: Neurology Authors: Matti L Sillanp ää, Peter Camfield, Eliisa Löyttyniemi Source Type: research

Impact of variant subtype on electro-clinical phenotype of Dravet syndrome- a South Indian cohort study
The prevalence of DS is found to be 1 in 20,000 to 1 in 40,000 of the general population, with a male-to-female ratio of 2:11. Variants in the SCN1A gene which codes for the alpha subunit of the voltage-gated sodium channel 1.1 composed of 26 coding exons, are found in more than 80% of patients with DS, which includes severe myoclonic epilepsy of infancy (SMEI) and severe myoclonic epilepsy borderland (SMEB) or Dravet borderline phenotype [1 –5]. The latter patients however have a better outcome compared to DS patients. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 12, 2024 Category: Neurology Authors: S Krishna, Alfiya Fasaludeen, Manna Jose, Moinak Banerjee, Soumya Sundaram, Ashalatha Radhakrishnan, Ramshekhar N Menon Source Type: research

Influence of antiseizure medication on long-term video-eeg in focal epilepsy: The significance of half-life
Dear Editor (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 10, 2024 Category: Neurology Authors: Prateek Kumar Panda, Indar Kumar Sharawat Tags: Reply Source Type: research

The Significance of Very Long Half-Life in the Context of Antiseizure Medication Withdrawal during Long-Term Video-EEG Monitoring
In this issue of Seizure, Kumar and Kumar comment on our recently published study, “Impact of Antiseizure Medication with a Very Long Half-Life on Long Term Video EEG Monitoring” [1,2]. They have expressed concerns regarding our methods and conclusions. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 10, 2024 Category: Neurology Authors: Kevin Gil Hampel, Carlos Morata-Mart ínez, Mercedes Garcés-Sánchez, Vicente Villanueva Tags: Letter to the editor Source Type: research

Intranasal administration of antiseizure medications in chronic and emergency treatment: Hopes and challenges
Epilepsy is one of the most prevalent neurological disorder, affecting approximately 70 million individuals worldwide [1]. Despite the development and approval of numerous antiseizure medications (ASMs), nearly 30% of epilepsy patients exhibit resistance to pharmacotherapy [2]. The medical consequences staying behind inadequate seizure control comprise premature mortality, physical harm, societal exclusion, stigma, heightened prevalence of depression and anxiety, and an overall diminished quality of life [1]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 4, 2024 Category: Neurology Authors: Natalia Chmielewska, Janusz Szyndler Tags: Review Source Type: research

Epilepsy-associated genes: discovery, clinical significance, and underlying principles of genetic medicine
The broad use of next-generation sequencing has led to the identification of an increasing number of epilepsy-associated genes. These new discoveries will benefit the clinical diagnosis, management, and genetic counselling of people with epilepsy. This Special Issue (SI) presents novel scientific contributions in this field, providing new insights into the genetics of epilepsy. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 2, 2024 Category: Neurology Authors: Wei-Ping Liao Tags: Editorial Source Type: research

Epilepsy-associated genes: discovery, clinical significance, and the underlying principle of genetic medicine
With the wide application of next-generation sequencing, an increasing number of epilepsy-associated genes have been identified, which will benefit the clinical diagnosis, management, and genetic consulting of epilepsy. This Special Issue (SI) presents novel scientific contributions in this field, providing novel insights into genetic epilepsy. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - January 2, 2024 Category: Neurology Authors: Wei-Ping Liao Tags: Editorial Source Type: research