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Neonatal seizure
- ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am ...
- ... in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. This condition almost exclusively affects males and is characterized by small head size (microcephaly), movement disorders, breathing problems, and seizures. Many of the MECP2 gene mutations that cause ...
- ... in serious complications such as intellectual disability and seizures. More About This Health Condition At least 14 mutations in the ABCC8 gene have been identified in people with permanent neonatal diabetes mellitus. Individuals with this condition often have ...
- ... in serious complications such as intellectual disability and seizures. More About This Health Condition At least 30 mutations in the KCNJ11 gene have been identified in people with permanent neonatal diabetes mellitus. Individuals with this condition often have ...
- ... have been found to cause pyridoxal phosphate-responsive seizures (sometimes called pyridoxamine 5'-phosphate oxidase deficiency or PNPO deficiency). People with PNPO deficiency typically develop seizures shortly after birth. Most of the variants in ...
- ... neurological problems, such as confusion, restlessness, irritability, and seizures, usually beginning in adulthood. Almost all of the ... found in infants with a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). This ...
- ... by episodes of extreme tiredness, appetite loss, and seizures, known as ketoacidotic attacks. Most OXCT1 gene mutations ... Ciafre M, Gibson J, Kondo N, Palmieri MJ. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA- ...
- ... the CASR gene.A more serious condition called neonatal severe hyperparathyroidism is caused by genetic mutations that ... both copies of the CASR gene are altered. Neonatal severe hyperparathyroidism is a potentially fatal condition that ...
- ... characterized by neurological problems such as intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ... J, Nassogne MC. Tyrosinemia Type III detected via neonatal screening: management and outcome. Mol Genet Metab. 2012 ...
- ... feeding, problems controlling breathing or body temperature, and seizures in infancy. Affected adults can have episodes of ... the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum Genet. 2003 Apr;112( ...
