ATP2A2 Mutation as Cause for Morbus Darier, Emotional Disturbances and Nighttime Seizures in One Family

We are reporting a 10-year-old female patient suffering from nighttime seizures und emotional disturbances. The electroencephalography recording is showing interictual bifrontal slowing and bilateral frontal spikes. The grandmother and her father had epilepsy until midtime adulthood. Grandmother and mother are showing mood alterations. The grandmother is suffering from morbus darier since puberty.

Morbus Darier also named dysceratosis follicularis is based on mutations of adenosine triphosphate-dependent Ca²⁺-channel. This channel is found in heart, skin, and also in the thalamus. It is part of an oscillatory triade together with voltage-gated t-type Ca²⁺ channels and Ca²⁺ activated K⁺ channels.

Lamotrigine therapy resulted in freedom from seizures. Mood disturbances have been ameliorated.

Conclusion: Familiar Morbus Darier can be an etiological hint for the underlying cause of epilepsy and mood disorder. It might be possible that lamotrigine therapy can be a specific therapeutic approach for this specific disorder.