Cerebellar vermis and inferior cerebellar hypoplasia - myoclonic epilepsy

What is Cerebellar vermis and inferior cerebellar hypoplasia - myoclonic epilepsy?

Cerebellar vermis and inferior cerebellar hypoplasia - myoclonic epilepsy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Two sibs (one had died previously) reported by Sheffer et al., (2015) had severe developmental delay (they made little progress), were microcephalic, had myoclonic seizures and hypoplasia of the inferior cerebellum and vermis. The 4th ventrice was enlarged. Mutations were found in INPP4A. This gene participates in the glutamic signaling pathway

* This information is courtesy of the L M D.

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What gene changes cause Cerebellar vermis and inferior cerebellar hypoplasia - myoclonic epilepsy?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:
N/A

What are the main symptoms of Cerebellar vermis and inferior cerebellar hypoplasia - myoclonic epilepsy?

The typical symptoms of the syndrome are:
N/A

How does someone get tested for Cerebellar vermis and inferior cerebellar hypoplasia - myoclonic epilepsy?

The initial testing for Cerebellar vermis and inferior cerebellar hypoplasia - myoclonic epilepsy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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