Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help

43 results

  1. Appendix References - Management of Infantile Epilepsies - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK586268
    ... et al. Agenesis of the corpus callosum and Aicardi syndrome: a neuroimaging and clinical comparison. Pediatr Neurol. 2017 ... al. Ketogenic diet therapy for epilepsy associated with Aicardi syndrome. J Child Neurol. 2021 Oct;36(11):1007– ...
  2. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Cree and/or ... 
    https://www.ncbi.nlm.nih.gov/books/NBK541231
    ... Uminski et al [2020] TREX1 Cree encephalitis (See Aicardi-Goutières Syndrome .) AR c.490C>T p.Arg164Ter 100% 1/ ... CG, Lebon P. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon ...
  3. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK320989
    ... MOI Infantile bilateral striatal necrosis ADAR ADAR -related Aicardi-Goutières syndrome AR AD 1 NUP62 NUP62 -related infantile bilateral ... glycosylation; MOI = mode of inheritance 1. ADAR -related Aicardi-Goutières syndrome can be inherited in an autosomal recessive or ...
  4. Leukodystrophies | MedlinePlus 
    https://medlineplus.gov/leukodystrophies.html
    ... Krabbe Disease (GLD) (National Marrow Donor Program) Specifics Aicardi-Goutieres Syndrome (National Institute of Neurological Disorders and Stroke) CADASIL ( ...
  5. Dictionary of Cancer Terms - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65951
    ... agoraphobia agranulocyte agranulocytosis AGUS AHA AI AI drug Aicardi syndrome AIDS AIDS-defining cancer AIDS-related cancer AIS ... diaphragm diaphragmatic ... supplement diethylstilbestrol dietitian differentiated thyroid cancer ...
  6. Mitochondrial DNA-Associated Leigh Syndrome Spectrum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1173
    ... MOI Infantile bilateral striatal necrosis ADAR ADAR -related Aicardi-Goutières syndrome AR AD 1 NUP62 NUP62 -related infantile bilateral ... recessive ; MOI = mode of inheritance 1. ADAR -related Aicardi-Goutières syndrome can be inherited in an autosomal recessive or ...
  7. GM3 Synthase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK593237
    ... almost exclusively in females. 3 SAMHD1 SAMHD1- related Aicardi-Goutières syndrome (AGS) AR Old Order Amish founder variant 4 ... ancestry and represents an ancient founder variant (see Aicardi-Goutières Syndrome ). Management No clinical practice guidelines for GM3 synthase ...
  8. AARS2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK608563
    ... enhancing. ADAR IFIH1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1 Aicardi-Goutières syndrome AR (AD) 3 Neurodegeneration Chilblain skin lesions AQP4 ... is inherited in an autosomal dominant manner. 3. Aicardi-Goutières syndrome is most frequently inherited in an autosomal recessive ...
  9. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... 141 NM_014363 ​.6 NP_055178 ​.3 SAMHD1 Aicardi-Goutières syndrome AR 8984-bp del of exon 1 5 -- ... genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation. J Child Neurol. 2015; ...
  10. Primary Familial Brain Calcification - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1421
    ... observed in some individuals [ Rapin et al 2006 ]. Aicardi-Goutières syndrome is typically an early-onset encephalopathy characterized by ...
first · previous · 1 · 2 · 3 · 4 · next · last