Discussing Benign Familial Infantile Epilepsy

Benign familial infantile epilepsy (BFIE) has been recognized for some time as infantile seizures, without fever, that run in families but the cause has thus far eluded researchers. However clinical researchers at the University of Melbourne and Florey Neurosciences Institute and molecular geneticists at the University of South Australia have discovered a gene.

There are no any disease that are associated with Epilepsy. Seizures is a disorder that is caused by overexcited nerve cells that is found in the brain that may cause abnormally. Researcher are of the view that in many instances the cause of the  Seizure isn’t known. Some causes of Seizure include Head injury, Dementia, meningitis, Genes, Injury to the brain before birth, stroke, Tumors, Infections, Toxic causes, heart atteck, and some other medical condition.

And It Gets Even Better…

Seizure is classified in two parts that is Partial seizures and Generalized seizures. Partial seizures may include the portion of brain and it further divided into Simple partial seizures, its symptoms may include involuntary twitching of muscles, vision problem, experiencing unusual taste and smell. Complex partial seizures is also catageized under Partial seizures, its symptoms are same as of the Simple partial seizures. Another category of seizure is Generalized seizures, it involve much more some of the brain. They can be Absence seizures, Myoclonic seizures and Tonic-clonic seizures.

BFIE is a disorder which place turkey in previously healthy infants who’re developing normally. Seizures commence when a baby is about six months old and stop by the minimum age of two years. BFIE is a rare form of epilepsy with the Australian researchers having studied about 40 families from all over the world. Some of the children with this gene abnormality develop an unusual movement disorder later in childhood or adolescence called Paroxysmal Kinesigenic Choreoathetosis (PKC).

Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder of infancy with autosomal dominant inheritance. We have identified heterozygous mutations in PRRT2. This encodes Proline Rich Transmembrane protein 2, in fourteen of seventeen families (82%) with BFIE, indicating that PRRT2 mutations are the most common cause of this disorder. We also report PRRT2 mutations in five of six (83%) families with Infantile Convulsions and Choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 causes both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy both in terms of age of expression (infantile versus later childhood) and in anatomical substrate (cortex versus basal ganglia).