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Brain disorder
- ... a rare cause of Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction (encephalopathy), skin lesions, immune system abnormalities, and ...
- ... A loss of UBE3A gene function in the brain likely causes many of the characteristic features of Angelman syndrome, a complex genetic disorder that primarily affects the nervous system. This loss ...
- ... in the brain, disrupting development. Abnormalities in certain brain regions likely underlie the speech, intellectual, and behavioral problems that can occur in SETBP1 disorder. More About This Health Condition Mutations in the ...
- ... cones can transmit some visual information to the brain.Because these CNG channels are specific to cones, rods are generally unaffected by this disorder. More About This Health Condition MedlinePlus Genetics provides ...
- ... 132(Pt 1):8-15. doi: 10.1093/brain/awn216. Epub 2008 Sep 12. Citation on PubMed Ito D. BSCL2-Related Neurologic Disorders / Seipinopathy. 2005 Dec 6 [updated 2018 May 24]. ...
- ... MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. Acta Neuropathol Commun. 2017 Nov 30;5( ...
- ... messenger (neurotransmitter) that helps regulate areas of the brain involved in reward-seeking behavior, attention, and mood. MedlinePlus Genetics provides information about Alcohol use disorder More About This Health Condition Common variations (polymorphisms) ...
- ... in cells and damage the liver, heart, and brain. This abnormal buildup causes the other signs and symptoms of the disorder. More About This Health Condition CPT1A gene variants ...
- ... receptors prevents normal growth and development of the brain or why too much or too little activity lead to similar neurological problems in people with GRIN2B-related neurodevelopmental disorder. More About This Health Condition MedlinePlus Genetics provides ...
- ... a link between problems with lipid homeostasis and brain iron accumulation or how these abnormalities might contribute to the features of this disorder.C19orf12 gene mutations can cause a spectrum of ...