Amish Infantile Epilepsy syndrome

What is Amish Infantile Epilepsy syndrome?

Amish Infantile Epilepsy syndrome is a rare disease. It is also known as Epilepsy Syndrome, Infantile-onset Symptomatic Gm3 Synthase Deficiency Salt And Pepper Mental Retardation Syndrome Saul (1983) - mental retardation; pigmentary anomalies.

An affected sister and two brothers were described with severe mental retardation, microcephaly, midface hypoplasia, scoliosis, reduced muscle mass, choreoathetosis, increased tone and abnormal skin pigmentation. The latter consisted of hypopigmented and hyperpigmented macules giving a 'salt and pepper' appearance. The sister had 5% fragile X on one occasion but not on repeat. There are similarities to Abdallat (1980).
Mutations in ST3GAL5, a ganglioside biosyntheytic enzyme has been found in the original family (Boccuto et al., 2014)

* This information is courtesy of the L M D.

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What gene changes cause Amish Infantile Epilepsy syndrome?

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.

OMIM Number - 609056 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
ST3GAL5 - 2p11.2

What are the main symptoms of Amish Infantile Epilepsy syndrome?

The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Optic atrophy, Visual loss, Hearing impairment, Bilateral tonic-clonic seizure, Global developmental delay, Cerebral visual impairment, Global brain atrophy, Developmental stagnation at onset of seizures, Developmental regression, Failure to thrive, Feeding difficulties in infancy, Irritability, Muscular hypotonia, Myoclonus, Status epilepticus, Vomiting, Hyporeflexia of upper limbs, Microcephaly, Lower limb hyperreflexia, Choreoathetosis, Absent speech

How does someone get tested for Amish Infantile Epilepsy syndrome?

The initial testing for Amish Infantile Epilepsy syndrome 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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