Seizure

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

Epilepsy affects 70 million people worldwide, 90 % of whom are in developing regions [1]. In Italy and other European countries, seizure disorders are among the most widespread neurological diseases, which affect an estimated 500.000 people with more than 30.000 new diagnoses every year [2,3]. More than one factor makes epilepsy a complex disease: its definition is regularly reviewed based on the new seizure criteria and classifications [4,5]; there are still unknown causes [6], and several cognitive mechanisms remain undefined ...

Hypothalamic hamartoma (HH) is a rare congenital brain malformation that leads to intractable epilepsy. Gelastic seizures (GS) are a hallmark of HH-related epilepsy, but development of other seizure types is possible (Supplementary table). In childhood, epilepsy usually begins with GS, but the seizure duration tends to be shorter than in adults [1]. Herein, we report video-electroencephalogram (EEG) findings of a female infant with HH with long-lasting unique seizure semiology.

Epilepsy with myoclonic-atonic seizures (EMAS), previously known as epilepsy with myoclonic astatic seizures, or Doose syndrome, is a syndrome characterized by the presence of myoclonic-atonic seizures in an otherwise normal child who may have a history of febrile and/or afebrile generalized seizures (generalized, myoclonic, atypical absence, and tonic seizures) [1–8]. EMAS is now considered to be a developmental and epileptic encephalopathy. Non-convulsive status epilepticus (NCSE) is seen in 17–40 % [1,5], with longer duration NCSE correlating with a poorer prognosis ...

Valproic acid (VPA) is a recognized first-line agent for both focal and generalized seizures. Regrettably, as shown by comparisons with unexposed controls and children exposed to other antiseizure medications (ASMs), intrauterine exposure to VPA carries a 2- to 7-fold increased risk of major congenital malformations (MCMs) [1–3], with an average dose-dependent prevalence of approximately 10% [2,4]. It has also been associated with poorer cognitive development [5–8] and with significantly increased rates of autistic traits and autism [7,8].

Approximately 600,000 people in the UK have epilepsy. [1] While epilepsy can occur at any age, there are two main peaks of diagnosis: in childhood and in people over 65. In the UK, there are nearly 12 million people aged 65 and above [2]. With increasing longevity, the number of people with epilepsy over 65 is likely to keep increasing [3]. The annual incidence of epilepsy in the UK is 86 per 100,000 for people aged 65–69 years and 135 ...

People with epilepsy (PWE) are more likely to develop psychiatric comorbidities than the general population [1–3]]· Previous studies exploring links between epilepsy and psychiatry have essentially focused on depression and psychosis. Anxiety has been described as the forgotten psychiatric comorbidity in PWE [4]· For a long time, anxiety disorders were considered as the second most frequent psychiatric comorbidity after depression in PWE but anxiety disorders are now recognized as being more prevalent than depression in this population [5–8]·.

The question whether self limited, epileptic seizures damage brain cells in humans has been debated for decades [1]. Severe, prolonged and repetitive seizures most certainly do so, while brief seizures such as typical, generalized absence seizures probably do not. Cell death in brief, self-limited and single seizures is difficult if not impossible to rule out, since a certain amount of dead or dying cells will be found in any tissue obtained for investigation [1]. CSF and serum measurements of cerebral ...

Infantile spasms is a common developmental epileptic encephalopathy, characterised by epileptic spasms, in patients less than two years of age. Most patients show hypsarrhythmia on electroencephalography (EEG) and developmental delay [1–3]. The standard treatments for infantile spasms are adrenocorticotropic hormone (ACTH), vigabatrin (VGB), and prednisolone; their efficacies are 40–76%, 36–54%, and 39–70%, respectively [4–8]. In 2017, the International League Against Epilepsy proposed a new classification that incorporates aetiologies into the diagnosis [9].

Viral encephalitis (VE) or bacterial meningoencephalitis (BME) in early childhood may cause brain injury and neurological sequelae, including epilepsy. Postencephalitic epilepsy (PEE) characterized by epileptic spasms (ES) is a rare but serious condition; there is an urgent need to develop new methods to evaluate the characteristics of these children and select appropriate treatments.