ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review

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,...

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Veröffentlicht in:	Egyptian Journal of Medical Human Genetics 2024-12, Vol.25 (1), p.54-7, Article 54
Hauptverfasser:	El Khatib, Dalida, Hojeij, Moussa, Sabbagh, Sandra, Mehawej, Cybel, Chouery, Eliane, Ryu, Seung Woo, Kim, JiHye, Mégarbané, Andre
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Ataxia Brain research Brain stem Cerebellum Cognitive ability Consanguinity Cytomegalovirus Epilepsy Exome Family Genetic aspects Genetic counseling Genetic disorders Genetic testing Intellectual disability Literature reviews Magnetic resonance imaging Medical colleges Medical genetics Medical research Medicine Medicine & Public Health Medicine, Experimental Patients Phosphatase Polymicrogyria Review Seizures Seizures (Medicine) Spasticity Strabismus Substantia alba
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