ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
Dalida El Khatib,
Moussa Hojeij,
Sandra Sabbagh
et al.
Abstract:Background
Polymicrogyria is a spectrum of complex cortical malformations encompassing multiple subtypes. Of these, bilateral frontoparietal polymicrogyria (BFPP) has been associated with pathogenic variants in the ADGRG1 gene, formerly known as GPR56. BFPP is characterized by cognitive impairment, motor delay, seizures, oculomotor findings, cerebellar, pyramidal signs, and brain malformations that consist of abnormal changes in the cortex, white matter, brainstem, and cerebellum.
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