An epilepsy syndrome is defined as "a characteristic cluster of clinical and Electroencephalography (EEG) features, often supported by specific etiological findings (structural, genetic, metabolic, immune, and infectious).
In other cases, the genetic change occurs de novo in the baby and there is no family history of other persons with early life seizures.
Many children will have a preceding history of developmental delay and neurological concerns however this syndrome can also affect previously healthy babies.
[5] Infantile spasms are treated with specific types of medication, most commonly either oral steroid, ACTH or vigabatrin.
While infantile spasms often stop with medication, many babies will develop other seizure types over time and most will be left with intellectual disability.
This syndrome was described in 1978 by Charlotte Dravet, a French psychiatrist and epileptologist, while working at the Centre Saint Paul at the University of Marseille.
Development is normal at the time of seizure onset, however developmental typically plateaus around age 2 years, and by adulthood, intellectual disability of varied severity is seen.
[citation needed] Persons with Dravet syndrome also have an increased risk of early death, particularly due to SUDEP.
The EEG shows epileptic discharges that occur over the centrotemporal region and are most frequent during drowsiness or light sleep.
Seizures typically have a prominent autonomic component, most commonly retching but also including pallor, nausea, abdominal pain or even syncope.
The EEG shows a normal background with epileptiform discharges that are maximal over the posterior head region and typically occur in sleep.
[6] Childhood absence epilepsy (CAE) is an idiopathic generalized epilepsy that presents in early to mid childhood (age 3–12 years) with typical absence seizures, characterized by abrupt loss of responsiveness, staring, sometimes with subtle motor features such as eye blinking or chewing.
Children with CAE do not show cognitive decline or neurological deficits, however have higher rates of learning disorders and ADHD.
Approximately two thirds of children will eventually have remission of seizures and can stop medication, usually within several years after epilepsy onset.
Although neurocognitive and behavioral improvement is typically seen after resolution of SWAS, many children are left with learning problems, Attention Deficit Hyperactivity Disorder and variable degrees of intellectual disability, depending on the underlying cause and the duration of the abnormal EEG pattern prior to effective treatment and the age at onset.
Persons with JAE do not show cognitive decline or neurological deficits, however have higher rates of learning disorders, depression, anxiety and ADHD.
Persons with JME do not experience neurocognitive regression but have higher rates of learning problems, depression and anxiety and ADHD.
Seizures arise from the mesial temporal structures (e.g., the hippocampus, amygdala, and parahippocampal gyrus) and often begin with autonomic (rising sensation from the abdomen to the chest, nausea, vomiting), cognitive (déjà vu, jamais vu), fear or sensory (bad smell or taste) symptoms.
These seizures arise from the frontal lobes and consist of complex motor movements, such as hand clenching, arm raising/lowering, and knee bending.
This syndrome features simple focal seizures that involve facial muscles and frequently cause drooling.
Seizures in BOEC usually feature visual symptoms such as scotoma or fortifications (brightly colored spots or lines) or amaurosis (blindness or impairment of vision).
Convulsions involving one half the body, hemiconvulsions, or forced eye deviation or head turning are common.
The EEG and genetic pattern suggest an autosomal dominant transmission as described by Ruben Kuzniecky, et al.[12] Lately, a group of epilepsies termed Panayiotopoulos syndrome[13] that share some clinical features of BOEC.
These patients have recurrent absence seizures, brief episodes of unresponsive staring, sometimes with minor motor features such as eye blinking or subtle chewing.
This condition carries a good prognosis because children do not usually show cognitive decline or neurological deficits, and the seizures in the majority cease spontaneously with ongoing maturation.
[citation needed] Epilepsy in females with intellectual disability, is characterized by seizure onset in infancy or early childhood (6–36 months) and cognitive impairment in some cases.
These patients are often first diagnosed when they have their first generalized tonic-clonic seizure later in life, when they experience sleep deprivation (e.g., freshman year in college after staying up late to study for exams).
In fact, flashing lights and hyperventilation are activating procedures used in clinical EEG to help trigger seizures to aid diagnosis.
It is a symptomatic localization-related epilepsy and in most cases the epileptogenic region is found in the midline (mesial) temporal structures (e.g., the hippocampus, amygdala, and parahippocampal gyrus).
It can be classified as idiopathic, syndromic, or cryptogenic depending on cause and can arise from both focal or generalized epileptic lesions.