Seizure

Sudden unexpected death in epilepsy (SUDEP) is a witnessed or unwitnessed fatal event, which may include seizures, in patients with epilepsy without evidence of status epilepticus, trauma, drowning, or other toxicologic or anatomic aetiologies, as demonstrated by autopsy (Table 1) [1]. SUDEP may represent a clinical continuum with other conditions leading to sudden death in young people, such as sudden unexpected infant death and sudden infant death syndrome (Table 1) [1].

Lennox-Gastaut syndrome (LGS) is a childhood-onset epilepsy associated with intractable seizures and variable but usually severe cognitive and behavioural impairments[1]. One of the most complex epilepsies to manage, up to 90% of patients fulfill diagnostic criteria for intellectual disability (ID), including a standardised intelligence quotient (IQ) below 70[2–6]. A minority of patients can display a cognitive profile within normal or near-normal limits[2], [3], [7], [8], but with slowed mental processing still leading to difficulties performing day-to-day activities[1].

Drug-resistant epilepsy often requires intracranial monitoring to delineate the seizure onset zone (SOZ) prior to undergoing surgical treatment. The concept of epileptogenic zone, described by Rosenow and Lüders, refers to the cortex required for generation of the patient’s epileptic seizures and which should be resected to render the patient seizure free [1]. This region contains the SOZ, which is the actual cortical tissue observed to produce the patient’s typical seizures; however, the epileptogenic zone may extend beyond this.

Valproate received its license for the treatment of epilepsy in the UK in 1972. It then went on to become one of the most commonly used anti-seizure medications (ASMs) for decades. Over time, case series’ and retrospective studies raised concerns of teratogenicity, [1] but these did not appear to substantially permeate the public or medical community consciousness until much later with the publication of results from the large prospective international registries in the mid-2000s (for detailed reference list see [2]).

: The extent to which co-occurring intellectual disability influences mortality in people with epilepsy is largely unknown. This study compares mortality rates in people with epilepsy with and without intellectual disability and investigates causes of death and risk factors for mortality.

We appreciate the interest shown by Joseph Finsterer, MD, PhD to our case report ‘Fever related super-refractory status epilepticus: An adulthood presentation of a novel POLG variant: A case report.’ [1]. We read with interest some of the insightful observations and comments and have the following response.

The phenomena of “vaccine encephalopathy” and post-vaccine developmental and epileptic encephalopathy (DEE) have been discussed for some time, though less so after the recognition that infants diagnosed with vaccine encephalopathy usually have Dravet syndrome secondary to SCN1A pathogenic variants.[1] However, for children with immunodeficiency, live-attenuated vaccines, including the measles-mumps-rubella (MMR) vaccine, can contribute to significant disease, which could include DEE. We present a boy who developed seizures and encephalopathy post-vaccination, evolving into infantile epileptic spasms syndrome (IESS, formerly West syndrome); ...

Stroke is the second most common cause of death and morbidity in the world [1]. It is considered malignant when the presence of edema leads to increased intracranial pressure and supratentorial herniation [2]. Malignant stroke occurs in 1-10% of patients with a supratentorial ischemic stroke [3] and it is associated with 80% mortality if left untreated [4]. For this condition, either conservative medical management or decompressive surgery may be decided, but the latter strategy has proven to be more effective ...

Lennox-Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy (DEE) with childhood-onset, typically before the age of 8 years and most commonly between the ages of 2 and 5 years [1,2]. LGS is characterized by the presence of (i) multiple seizure types, including tonic seizures, atypical absences and tonic or atonic drop attacks, and (ii) abnormal electroencephalogram (EEG) activity, consisting primarily of interictal slow-spike waves (SSW) and paroxysmal fast rhythms during non-REM sleep [3].

Dystroglycanopathy is a group of muscular dystrophies caused by deficient glycosylation of α-dystroglycan (α-DG) and exhibits high clinical and genetic heterogenicity. A variety of reported genes have been associated with dystroglycanopathy, including POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, ISPD, POMGNT2, POMK, TMEM5, B3GALNT2 and so on [1]. Dystroglycanopathy causes a wide spectrum of clinical severities. The severe phenotypes include Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD).