Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene
Epilepsy with eyelid myoclonias, originally depicted by Jeavons in 1977, is a reflex epilepsy characterized by jerking of the eyelids with or without absences precipitated by eye closure or by light (eyelid myoclonia, EM), eye closure-induced EEG paroxysms and photosensitivity. Childhood-onset, female predominance and a normal development are typical features, though a mild intellectual disability has been reported. Sotos syndrome is a disorder characterized by a distinctive facial appearance, learning disability and overgrowth in childhood with macrocephaly, caused by heterozygous pathogenic variants or deletions in NSD1 gene.
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Vincenzo Mastrangelo, Raffaella Minardi, Maria Chiara Baroni, Giulia Severi, Enrico Ambrosini, Francesco Toni, Lara Alvisi, Laura Licchetta, Francesca Bisulli, Paolo Tinuper, Barbara Mostacci Tags: Clinical letter Source Type: research
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