Idiopathic generalized epilepsy

The cognitive problem can be seen in 40%-60% of IGE patients.[9] Patients with uninhibited epilepsy are more prone to have cognitive dysfunctions.[9] Polypharmacy pharmacological treatment is one of the factors for cognitive dysfunction in IGE.[9]

This form of epilepsy is very rare, and is twice as prevalent in boys compared to girls.[6] It representing less than 2% of cases in IGE and 1% of all the epilepsy.[14] Age of seizure onset is between 4 months and 3 years of age.[6] Children with this disorder often present with head drops and brief arm jerks.[6] Although there is believed to be a genetic basis for this disorder, no genetic linkage has been shown.[14] There are few findings related to similar family history and also evidence of autosomal dominance in few cases.[14] There are few linkages in the chromosomal zone but there was no precise gene has been found.[14] There was evidence of febrile seizure has been found almost in 50% of the cases.[6] Some times at the initials stage it was misdiagnosed (differential diagnose) as West syndrome.[6] The first line of treatment for BMEI is anti seizure medication that is Valproic acid (VPA).[6] when the seizure could not be controlled by Valproic acid (VPA) then lobazam (CLB) or ethosuximide (ESM) can be used as replacements.[6]

Generalized epilepsy with febrile seizures plus (GEFS+) is an umbrella for many other syndromes that share causative genes.[15] Patients experience febrile seizures early in childhood and grow to experience other types of seizures later in life.[16] In GEFS+ febrile seizures started at the age of 6 month and it will continue till more than 6 years of age.[17] During the period, sometimes fever is present sometimes fever was absent.[17] Known causative genes for GEFS+ are the sodium channel α subunit genes SCN1A and SCN2A and the β subunit gene SCN1B. Mutations in the GABA_A receptor γ subunit GABRG1 are also causative for this disorder.[17] Sometimes it’s comorbid with Autism, anxiety, and mental retardation.[17] GEFS+ is inherited and one of the causal factor is autosomal dominance.[18] The treatment for GEFS+ depend on the severity and type of seizures.[16] The children who are having the more complex forms of seizures need a combination of antiepileptic drugs.[16] The children who are having febrile convulsion do not require complex antiepileptic medicines.[16] As it is a rare entity, there isn't much evidence for the actual prevalence.[15] The diagnosis of GEFS+ mostly based on the clinical history, family history and neurological evaluations.[16] As mutation is one foe the major reason for GEFS+, so blood test for finding out the mutation could be one of the diagnostic process.[16]

This rare epilepsy has a wide age range of presentation (from the first year of life through the early teens).[16] This syndrome can be found in 1 in 100-200 children with epilepsy.[16] In comparison to the girls it is mostly found in boys.[19] This epilepsy is characterized by absence seizures concurrent with myoclonic jerks, typically occurring several times daily.[19] There is no evidence of focal seizures, and also absence seizures concurrent with myoclonic jerks. [20] The genetics of this disorder have not been delineated,[19] but few case studies showed that there is a relation with the SYNGAP1 gene.[20] Seizures from this disorder often cease within 5 years.[19] Diagnosis of EMA is basically based on clinical features and clinical history.[16] EEG plays a major role in the diagnosis of EMA.[16] Abnormal EEG can be recorded due to hyperventilation.[20] Sometimes for diagnosis, the clinicians tried to trigger the seizure by getting the child to over-breathe.[16] MRI is required to find out the structural changes in the brain.[20] Though the imaging is normal, there were few atrophy can be seen.[20] The seizures were not well controlled by monotherapy.[19] Combination of several anti-epileptic drug is useful for the treatment of seizures in AME.[19] Lamotrigine and sodium valproate, or ethosuximide and sodium valproate, combined are pretty useful and effective.[16] Clinicians should avoid the medications such as carbamazepine, oxcarbazepine, eslicarbazepine and phenytoin.[19] Surgery is not as useful in this case.[19]

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.

Also known as pyknolepsy, childhood absence epilepsy (CAE) represents up to 10% of all childhood epilepsies.[21] It first manifests in childhood between the ages of 2 and 12 as brief periods of unconsciousness (absence).[21] It can ben found equally in both males and females.[21] Mutations in the calcium channel α subunit encoding gene CACNA1H and the GABA receptor γ subunit encoding gene GABRG2 yield susceptibility for CAE.[11] Patient with CAE might have the history of febrile seizure.[21] Though the cognition and developmental milestones are normal, in some cases Attention deficit hyperactivity disorder and learning disabilities can be comorbid with CAE.[21] They can interfere with children's academic performances and daily lives.[22] The occurrence absence seizures vary from 0.7 to 4.6/100,000 in overall population and 6 to 8/100,000 in children up to 15 years-old.[23]

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[16] In JAE the child may experience both absence seizures as well as tonic-clonic seizures.[24] The duration of seizures lasts for 5-20 sec or in some cases maximum 40 sec.[16] The patients with this disorder have less frequent but longer absence seizures than those with CAE.[24] Though the cognition is intact, but attention deficit hyperactivity disorder and learning difficulties sometimes comorbid with JAE.[20] Roughly 1 to 2 in 100 case with epilepsy have been diagnosed as JAE.[25] Diagnosis of JAE is mainly on the basis of seizure type, clinical history, family history, and physical and neurological examinations by expert clinicians.[16] 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.[25] There are a number of possible genetic loci for this disorder, though no causative genes have been demonstrated.[25] The useful anti-seizure medication for JAE are ethosuximide (Zarontin), sodium valproate (Epilim) and lamotrigine (Lamictal).[16][25] Ketogenic diet is also an treatment option and also do not have side effects.[16]

Also known as Janz syndrome,[26] juvenile myoclonic epilepsy (JME) is a common form of epilepsy, accounting for ~10% of all cases and ~25% of cases of idiopathic generalized epilepsies.[27] Many children with CAE go on to develop JME.[27] JME first presents between the ages of 12 and 18 with prominent myoclonic seizures.[27] These seizures tend to occur early in the morning.[27] Patients with JME may also have generalized tonic-clonic seizures and absence seizures.[27] Linkage of this disorder has been shown to mutations in the genes GABRA1, CACNB4, CLCN2, GABRD2, EFHC1, and EFHC2.[26][28] The onset of Juvenile myoclonic epilepsy is in adolescence, and it might continued lifelong.[26]

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.