Seizure

HIDEA syndrome (MIM: #618493) is a rare autosomal recessive disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye anomalies. We present the case of a Turkish female with developmental and epileptic encephalopathy, highlighting a novel compound heterozygous variation in the P4HTM gene.

People living with epilepsy (PLWE) who have been seizure-free for a long time may wish to discontinue antiseizure medications (ASMs) to avoid the inconvenience. However, a significant challenge in deciding to stop ASMs for PLWE who have achieved long-term remission is the lack of information, particularly regarding the seizure recurrence proportion (SRP) in PLWE who continue taking ASMs even after a long-term seizure remission (PLWE on ASM).

Epilepsy is more than a predisposition towards recurrent seizures. It also entails biological, psychological, and social issues [1], that in part are sex specific. The two main types are focal and generalized epilepsies. Generalized epilepsy is predominantly found in patients with seizure onset in childhood and adolescence of which the majority is idiopathic generalized epilepsy (IGE) [2]. Whereas focal epilepsy can be accompanied by localized brain dysfunction, cognitive abilities are essentially normal in IGE.

Childhood absence epilepsy (CAE) is a common epilepsy syndrome primarily characterized by a sudden disturbance of consciousness and attention deficits. The onset age of CAE is usually between 4-10 years old and parents often observe brief staring spells in afflicted children, sometimes with rhythmic eye blinking or motor automatisms. During ictal period, typical generalized (bilateral, symmetric, and synchronous) 2.5-3.5 Hz spike and wave discharges (SWDs) can be captured by electroencephalogram (EEG) [1–3].

Epileptic spasms (ES) are a type of seizure characterized by brief contractions of the axial and proximal limb muscles and are typically characterized by ictal polyphasic slow waves with superimposed faster frequencies on electroencephalogram (EEG)[1]. ES are most commonly observed in infantile epileptic spasms syndrome (IESS), a devastating developmental and epileptic encephalopathy (DEE), however, they may also occur in other epilepsy syndromes (i.e., Lennox Gastaut syndrome)[1]. IESS is characterized by ES, the EEG finding of hypsarrhythmia and often by developmental ...

Tuberous sclerosis complex (TSC) is an inherited systemic disorder caused by pathogenic mutations in the TSC1 and TSC2 genes [1]. These tumor suppressor genes respectively encode the proteins hamartin and tuberin, which form a complex to negatively regulate mTORC1 signaling [2]. Overactivation of this signaling pathway in TSC allows for the development of hamartomas and other neoplasms in the brain, retina, kidney, lung, heart, liver, and skin [1-3]. Thus, an integral component of comprehensive TSC care is routine radiologic surveillance ...

Abusive Head Trauma (AHT) remains an important cause of child morbidity and mortality. The condition is also known as non-accidental head injury, inflicted traumatic brain injury, shaken baby syndrome, or traumatic head injury due to child maltreatment. Population-based studies report the incidence of AHT between 17.0 and 24.6 per 100,000 children in the first two years of life.[1,2] Reported risk factors for AHT include child-related variables (age below two years, multiple births, male sex, underlying medical condition) and caregiver-related variables ...

The base of the frontal lobe, situated in the anterior cranial fossa, is anatomically bounded medially by the gyrus rectus, laterally by the lateral orbital gyrus, frontally by the frontal pole, and dorsally by the anterior perforating substance. Due to their anatomical proximity to the orbit, these gyri are collectively called the orbitofrontal region (OFR) or the orbitofrontal cortex (OFC).[1] The OFR encompasses Brodmann areas 10, 11, 47/12, 12, 14, and part of 45. Histologically, the frontobasal cortex exhibits a ...

The WHO, in partnership with the International League against Epilepsy (ILAE) and the International Bureau for Epilepsy, released its first global report on epilepsy and recognized epilepsy as a public health imperative in 2019 [1]. More recently, the intersectoral global action plan (IGAP) on epilepsy and neurological disorders set lofty targets for epilepsy to be achieved by 2031 [2]. To get anywhere close to the IGAP targets, resources have to be rationally spent in an evidence-based manner. This includes resources ...

Epilepsia Partialis Continua (EPC), also called focal motor status epilepticus, is a rare and severe condition characterised by unremitting focal onset seizures with preserved consciousness [1]. The heterogeneous aetiologies and refractoriness to treatment entail challenging management. Neuromodulation techniques have been tried in an attempt to better localise the seizure onset or contribute to the management of these patients [2].