This hypothesis is tentative, and needs further research to determine if it is plausible.


[This question was asked by a Dr. Chandler Marrs, contributing through the Facebook page.]

Dr. Marrs posted suggesting we consider progesterone or other hormone receptor mutation. She provided contact information for a Richard P. Lifton, MD, PhD, noting that Dr. Lifton is Sterling Professor of Genetics and Professor of Medicine (Nephrology); Chair, Department of Genetics; Investigator, Howard Hughes Medical Institute at the Yale School of Medicine.

Her reason for suggestions we contact Dr. Lifton is that he does genetic research associated w/ pre-eclampsia.

Dr. Marrs further notes that a similar mutation in CNS hormone receptors could cause seizures, theoretically, maybe not gain of function. She suggests we contact Dr. Lifton to schedule a genetic workup.

Follow Up:

At this time we are unclear on the mechanism for a hormone receptor mutation triggering seizure clusters. We are intrigued by the potential for hormonal involvement (given the timing/periodicity of the seizures).

We sent a FB message to Dr. Marrs asking that she provide additional context for this line of thinking. At this time we have not heard back from her.


What role does a mutation in a hormone receptor play in triggering seizures?

Which hormone receptor?

Action Plan:

We are particularly interested in suggestions for this hypothesis, particularly relating to directions for background research to provide context for further action.

Have something to tell us? Send an email to seizuremystery@gmail.com or contact us on Facebook.

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