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 ...

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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 ...

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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.

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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 ...

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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].

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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.

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Measuring Quality and Safety of Epilepsy Monitoring Units In Brazil: Adoption of Quality Indicators

Epilepsy is a prevalent neurologic condition worldwide, with estimated lifetime prevalence rates of 5.8 per 1,000 in developed countries and 10.3 per 1,000 in urban areas and 15.4 per 1,000 in rural areas of developing countries [1]. However, due to variations in study methodology and limited data in many parts of the developing world, the true prevalence of epilepsy remains uncertain [1,2]. Brazil, in particular, lacks comprehensive data; however, published reports estimate the lifetime prevalence of epilepsy to be between ...

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Clinical characteristics and associated factors of posttraumatic epilepsy after traumatic brain injury in children: a retrospective case-control study

Traumatic brain injury (TBI) is a significant global health concern, impacting approximately 69 million individuals annually1 and is associated with several physical and cognitive complications, including seizure and epilepsy.2,3 These seizures, referred to as posttraumatic seizures (PTS), can manifest at different time intervals following the injury. PTS classification depends upon the time of seizure onset relative to the injury, comprising immediate PTS (<24 hours), early PTS (occurring between 24 hours and 7 days), and late PTS (>7 days post-injury).

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