Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE As genetic testing is increasingly accepted as first tier testing for epileptic encephalopathies, we aimed to provide a comprehensive overview of ALDH7A1 mutations that cause PDE. 30043187 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female with homozygosity for the most prevalent ALDH7A1 missense mutation, c.1279G > C; p.Glu427Gln in exon 14. 29401530 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE Vitamin-B<sub>6</sub>-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (<i>ALDH7A1, PNPO, ALPL</i> or <i>ALDH4A1</i>). 28391250 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in ALDH7A1. 24114605 2014