Marcelo Luiz Medeiros Soares, Nathália Alves Castro do Amaral, Amanda Correia Paes Zacarias, Leila Karina de Novaes Pires Ribeiro
Sociodemographic, clinical and epidemiological aspects of Tuberculosis treatment abandonment in Pernambuco, Brazil, 2001-2014
Epidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil
investigate significance variation adgrv1 also known gpr98 mass1 vlgr1 mef2c genes 5q143 chromosomal locus myoclonic epilepsy studied epilepsy phenotypes 4 individuals 5q143 deletion found myoclonic seizures screened 6 contiguous genes 5q143 mef2c cetn3 mblac2 polr3g lysmd3 adgrv1 95patient cohort epilepsy myoclonic seizures genes point mutations mef2c cause phenotype involving seizures intellectual disability role adgrv1 epilepsy proposed previously based recessive mutation frings mouse model audiogenic seizures well shared homologous region another epilepsy gene lgi1 six patients myoclonic epilepsy cohort likely pathogenic ultrarare adgrv1 variants statistical analysis showed ultrarare variants significantly overrepresented compared healthy population data genome aggregation database remaining genes definite pathogenic variants identified data suggest adgrv1 variation contributes epilepsy myoclonic seizures although inheritance pattern may complex many cases patients 5q143 deletion epilepsy adgrv1 haploinsufficiency likely contributes seizure development latter shift current thinking mef2c haploinsufficiency considered main cause epilepsy 5q143 deletion syndrome cases 5q143 deletion epilepsy seizures likely occur due haploinsufficiency one adgrv1 mef2c