Abstract Details

Title FRRS1L gene Homozygous Mutation (p.Gly246del) in Puerto Rican Families With Epileptic Encephalopathy and Dyskinetic Movements

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P2 - Poster Session 2 (5:30 PM-6:30 PM)

Poster/Presentation
Number 6-010

Objective

To describe the clinical presentation of Early Infantile Epileptic Encephalopathy-37 (EIEE-37) in six patients with Southern Puerto Rican ancestry that are homozygous for the same FRRS1L mutation.

Background EIEE-37 is caused by biallelic loss of function mutation of FRRS1L gene, which is critical for AMPA-receptor function, resulting in intractable epilepsy and dyskinesia.

Design/Methods A retrospective chart review of patients with FRRS1L mutation, followed at neurology clinic was performed. Clinical variables included age of onset, presence of developmental delay, EEG and brain MRI findings, genetic testing and ancestry information.

Results Six patients from four different families were homozygous for the (p.Gly246del) FRRS1L mutation detected via whole exome sequencing or an epilepsy panel. The age of onset of symptoms was eight to fifteen months. All had severe global developmental delay. EEG showed hypsarrhythmia in three out of six patients; the remainder had slow backgrounds and epileptiform activity. All had refractory epilepsy. Two patients demonstrated progressive cerebellar atrophy on brain MRI.

Conclusions A founder effect in a specific population in southern Puerto Rico is a probable explanation for a higher incidence of EEIE-37, in our patients with a very homogenous phenotype of severe developmental delay, intractable epilepsy, and movement disorders.

Authors/Disclosures
Imane Abdelmoumen, MD PRESENTER	Dr. Abdelmoumen has nothing to disclose.
Sandra Jimenez, MD (Hasbro Children's Hospital)	Dr. Jimenez has nothing to disclose.
Ignacio Valencia, MD (St. Christopher's Hosp for Children/Neuro)	No disclosure on file
Joseph J. Melvin, DO (St. Christopher'S Hospital for Children)	Dr. Melvin has received personal compensation in the range of $100,000-$499,999 for serving as a Physican with Tower health.
	No disclosure on file

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