Symptoms
Before the seizure begins- *Odd changes in taste *Changes in emotions *Changes in Vision *Changes in Smell During seizure *bite your cheek or tongue *lock your jaw *lose control of your bladder or bowels *turn blue in the face After the seizure *No Memory event *Drowsiness *Headache *ConfusionCognitive Function
The cognitive problem can be seen in 40%-60% of IGE patients. Patients with uninhibited epilepsy are more prone to have cognitive dysfunctions. Polypharmacy pharmacological treatment is one of the factors for cognitive dysfunction in IGE.Causes
The particular causal factor leading to IGE is unknown, but the primary cause for IGE found to be genetic. There are specific mutations and chromosomal abnormalities noted in IGE. There is evidence from different studies of the association between IGE and chromosome 15. Irregular GABA receptor function is one of the causal factors for IGE. As the main cause of the IGE is genetic, it can be inherited from parents due to some genetic modifications. IGE is related to different gene mutation, which is either new or inherited. The genetic mutations that cause IGE are not completely clear, but it is not a single gene mutation. One of the genes that is responsible for IGE is CHRNA7. The genetic causal evidence can be seen in a different study conducted in monozygotic twins than dizygotic twins.Diagnosis
Although the diagnosis of IGE is primarily based on clinical features, electroencephalography (EEG) play an vital role in diagnosis of IGE. Sleep deprivation is one of the cause for having abnormal EEG pattern. There was no abnormality found in the interictal EEG. In a few cases, discharge of spike waves can be seen in both awake and sleeping state. Diagnosis is based on the clinical history, family history, physical and neurological examination done by the experts. Study shows that there are no significant structural changes were found in MRI of IGE patients.Types
Benign myoclonic epilepsy in infancy (BMEI)
This form of epilepsy is very rare, and is twice as prevalent in boys compared to girls. It representing less than 2% of cases in IGE and 1% of all the epilepsy. Age of seizure onset is between 4 months and 3 years of age. Children with this disorder often present with head drops and brief arm jerks. Although there is believed to be a genetic basis for this disorder, no genetic linkage has been shown. There are few findings related to similar family history and also evidence of autosomal dominance in few cases. There are few linkages in the chromosomal zone but there was no precise gene has been found. There was evidence of febrile seizure has been found almost in 50% of the cases. Some times at the initials stage it was misdiagnosed (differential diagnose) as West syndrome. The first line of treatment for BMEI is anti seizure medication that is Valproic acid (VPA). when the seizure could not be controlled by Valproic acid (VPA) then lobazam (CLB) or ethosuximide (ESM) can be used as replacements.Generalized epilepsy with febrile seizures plus
Generalized epilepsy with febrile seizures plus (Epilepsy with myoclonic absences (EMA)
This rare epilepsy has a wide age range of presentation (from the first year of life through the early teens). This syndrome can be found in 1 in 100-200 children with epilepsy. In comparison to the girls it is mostly found in boys. This epilepsy is characterized by absence seizures concurrent with myoclonic jerks, typically occurring several times daily. There is no evidence of focal seizures, and also absence seizures concurrent with myoclonic jerks. The genetics of this disorder have not been delineated, but few case studies showed that there is a relation with the SYNGAP1 gene. Seizures from this disorder often cease within 5 years. Diagnosis of EMA is basically based on clinical features and clinical history. EEG plays a major role in the diagnosis of EMA. Abnormal EEG can be recorded due to hyperventilation. Sometimes for diagnosis, the clinicians tried to trigger the seizure by getting the child to over-breathe. MRI is required to find out the structural changes in the brain. Though the imaging is normal, there were few atrophy can be seen. The seizures were not well controlled by monotherapy. Combination of several anti-epileptic drug is useful for the treatment of seizures in AME. Lamotrigine and sodium valproate, or ethosuximide and sodium valproate, combined are pretty useful and effective. Clinicians should avoid the medications such as carbamazepine, oxcarbazepine, eslicarbazepine and phenytoin. Surgery is not as useful in this case.Epilepsy with myoclonic-astatic seizures
Originally called Doose syndrome, epilepsy with myoclonic-astatic seizures accounts for ~2% of childhood epilepsies. Children with this disorder have incredibly brief (<100ms) myoclonic jerks followed by equally brief loss of muscle tone, sometimes resulting in dangerous falls. Some patients have much longer lasting seizures of this type. Many patients with this disorder also have absence seizures. This is believed to be a polygenic disorder.Childhood absence epilepsy
Also known as pyknolepsy,Juvenile absence epilepsy
Juvenile absence epilepsy is similar to CAE but has an onset between ages 9 and 12, sometimes it may start earlier at the age of 6–7 years In JAE the child may experience both absence seizures as well as tonic-clonic seizures. The duration of seizures lasts for 5-20 sec or in some cases maximum 40 sec. The patients with this disorder have less frequent but longer absence seizures than those with CAE. Though the cognition is intact, but attention deficit hyperactivity disorder and learning difficulties sometimes comorbid with JAE. Roughly 1 to 2 in 100 case with epilepsy have been diagnosed as JAE. Diagnosis of JAE is mainly on the basis of seizure type, clinical history, family history, and physical and neurological examinations by expert clinicians. EEG and MRI have been necessary to perform just to find out the seizure activity and whether any lesion involves, though the MRI has been found normal in patients with JAE. There are a number of possible genetic loci for this disorder, though no causative genes have been demonstrated. The useful anti-seizure medication for JAE are ethosuximide (Zarontin), sodium valproate (Epilim) and lamotrigine (Lamictal). Ketogenic diet is also an treatment option and also do not have side effects.Juvenile myoclonic epilepsy
Also known as Janz syndrome, juvenile myoclonic epilepsy (JME) is a common form of epilepsy, accounting for ~10% of all cases and ~25% of cases of idiopathic generalized epilepsies. Many children with CAE go on to develop JME. JME first presents between the ages of 12 and 18 with prominent myoclonic seizures. These seizures tend to occur early in the morning. Patients with JME may also have generalized tonic-clonic seizures and absence seizures. Linkage of this disorder has been shown to mutations in the genesEpilepsy with generalized tonic-clonic seizures only
This type of IGE can present at almost any age and is poorly characterized. Because of its loose definition, it is impossible to supply an accurate estimate of its prevalence. As implied by its name, patients with this disorder present only with tonic-clonic seizures.Epidemiology
The worldwide prevalence for IGE is 3 6/1000. The prevalence of IEG varies from study to study. In some, it is as low as, and in some, it is as high as. It is found to be high in those study that includes children and adolescents with epilepsy. The onset of IGE is mostly found in childhood to adolescence, but in few cases, the onset has been found after 60 years of age. The late onset of IGE is mostly found in women.References
Sources
* * {{DEFAULTSORT:Idiopathic Generalized Epilepsy Epilepsy types