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Absence epilepsy
- ... Health Condition MedlinePlus Genetics provides information about Childhood absence epilepsy More About This Health Condition ECA4 EJM EJM5 ...
- ... neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Hum Mol Genet. 2004 Jun 1;13(11): ...
- ... tonic-clonic seizures (or grand mal seizures) and absence seizures. Most gene mutations associated with juvenile myoclonic epilepsy replace single protein building blocks (amino acids) in ...
- ... symptoms than males. Affected females may have an absence of the tissue connecting the left and right halves of the brain (agenesis of the corpus callosum), some degree of intellectual disability, and recurrent seizures (epilepsy). Some females with an ARX gene mutation experience ...
- ... convulsive seizures in infancy, followed in childhood by absence seizures, which cause loss of consciousness for short ... ALPHA SUBUNIT 9; SCN9A DRAVET SYNDROME; DRVT GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 NCBI ...
- ... CLPB deficiency is likely caused by a complete absence of CLPB protein, while moderate and mild CLPB ... is produced. Researchers are unsure how reduction or absence of this protein leads to the signs and ...
- ... Hauser syndrome, which is characterized by underdevelopment or absence of the vagina and uterus. Features associated with ... 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007 Nov;81(5): ...
