Nuha Al Zaabi Noora Al Menhali Fatma Al-Jasmi
10.1002/mgg3.341
Mol Genet Genomic Med
2018 Jan;6(1):109-113.
synj1 intractable seizure neurodegenerative disorder whole-genome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/29179256/
Phosphoric Monoester Hydrolases / genetics Phosphoric Monoester Hydrolases / physiology
Phosphoric Monoester Hydrolases / genetics Phosphoric Monoester Hydrolases / physiology Case Reports Research Support, Non-U.S. Gov't Brain / physiopathology Child, Preschool Consanguinity Female Genes, Recessive Humans Infant, Newborn Male Microcephaly / genetics Muscle Hypotonia / genetics Mutation Neurodegenerative Diseases / genetics Pedigree Phenotype Phosphoric Monoester Hydrolases / metabolism Seizures / diagnosis Seizures / genetics Synaptic Vesicles / genetics Tauopathies / genetics Phosphoric Monoester Hydrolases phosphoinositide 5-phosphatase
PMC5823681
29179256
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure
2018