Results 11 -
20
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22
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Infantile onset
- ... is likely that NPHS2 gene mutations that cause infantile nephrotic syndrome have less effect on podocin function than those that cause congenital nephrotic syndrome, accounting for the later onset of the disorder. nephrosis 2, idiopathic, steroid-resistant ( ...
- The CDKL5 gene provides instructions for making a protein that is found in cells and tissues throughout the body. However, it is most active in the brain ...
- ... and balanced (postural instability).Both of these later-onset conditions are caused by PLA2G6 gene mutations that are believed to have a less severe effect on PLA2 group VI enzyme function than the mutations that cause infantile neuroaxonal dystrophy. CaI-PLA2 calcium-independent phospholipase A2 ...
- ... neuronal protein 6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant CLN4A CLN6_HUMAN FLJ20561 HsT18960 nclf Tests ... Mole SE, Nardocci N, Santorelli FM. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. ...
- ... I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile) flavoprotein-linked monooxygenase GLC3A microsomal monooxygenase xenobiotic monooxygenase ...
- ... gene have been reported to cause X-linked infantile spinal muscular atrophy. This condition is characterized by ... childhood.UBA1 gene variants that cause X-linked infantile spinal muscular atrophy are inherited and present in ...
- ... tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. J Biol Chem. 2009 Feb 6; ... provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. J Biol Chem. 2009 Feb ...
- ... variants in the DEPDC5 gene can also cause infantile spasms, a type of seizure that usually appears ... muscle contractions. The DEPDC5 gene variants that cause infantile spasms also reduce the amount of functional GATOR1 ...
- ... a brain disorder that usually begins in infancy (infantile Krabbe disease) and causes movement and eating problems, ... Krabbe disease in childhood, adolescence, or adulthood (late-onset Krabbe disease). It is thought that these individuals ...
- ... can cause movement problems and seizures called benign infantile seizures, which usually develop in the first year ... N, Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. ...
