Principal investigator: Dr. Muhammad Zafar

Research Institution: Duke University School of Medicine

Research Study Title: Epilepsy in Malan Syndrome

Status: Active

Study ends: November 20, 2021

Who can participate? All individuals with a genetic diagnosis of Malan syndrome (NFIX gene variant) are encouraged to complete the survey (both international and domestic).


**If your child does not have epilepsy, it is important that you still participate; simply check that your child does not have epilepsy and complete the other sections of the survey on behavior, sleep, language and gross/fine motor development. All responses will be de-identified.

The information obtained from this study will be presented at an upcoming in-person/virtual Malan Syndrome Family Conference. The information will also be prepared for publication in a medical journal.

Please contact the Malan Syndrome Foundation at to receive the link to the survey.

Principal investigator: Josh Goulding-Talbot 

Research Institution:  University of Leicester and University of Sheffield

Research Study Title: Anxiety and mood difficulties in genetic syndromes, and their potential correlates

Status: Closed

Study ends: May 31, 2021

Who can participate?  Parent/guardian of a child between the ages of 3 and 18 years with Malan syndrome (both international and domestic)

Anxiety can have a tremendous impact on people with Malan syndrome and their families. This study aims to learn more about the experience of anxiety and related feelings/behaviors.

Please contact Josh Goulding-Talbot at to receive the link to the survey.