Loading...
*  Epileptic spasms
Aicardi syndrome cephalhematoma and vascular malformation. Furthermore, other causes increasingly being named in the literature ... Incontinentia pigmenti Foix-Chavany-Marie syndrome Patau syndrome (trisomy 13) Sturge-Weber syndrome neurometabolic diseases ... West syndrome appears in 1% to 5% of infants with Down syndrome. This form of epilepsy is relatively difficult to treat in ... The reason why it is easier to treat children with Down syndrome is not known. If, however, a child with Down syndrome has ...
*  Aicardi syndrome
Almost all reported cases of Aicardi syndrome have been in girls. The few boys that have been identified with Aicardi syndrome ... All cases of Aicardi syndrome are thought to be due to new mutations. No person with Aicardi syndrome is known to have ... GeneReviews/NCBI/NIH/UW entry on Aicardi Syndrome OMIM entries on Aicardi syndrome. ... Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in ...
*  Aicardi-Goutières syndrome
... (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually ... Aicardi, J; Goutieres, F (2000). "Systemic lupus erythematosus or Aicardi-Goutieres syndrome?". Neuropediatrics. 31: 113. doi: ... 2009). "Aicardi-Goutieres syndrome: neuroradiologic findings and follow-ups". AJNR Am J Neuroradiol. 30: 1971-6. doi:10.3174/ ... 1995). "The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and ...
*  DMOZ - Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Aicardi Syndrome
Aicardi syndrome is a very rare neurological condition due to a congenital abnormality of brain development. ... Aicardi Syndrome Foundation Information about the disease, a medical survey, where to get help, publications and a chat room ... NINDS: Aicardi Syndrome Information sheet compiled by National Institute of Neurological Disorders and Stroke with general ... MedlinePlus: Aicardi Syndrome Definition, symptoms, signs and treatments. Includes support group information plus an ...
*  List of neurological conditions and disorders
... and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various ... 15 Joubert syndrome Karak syndrome Kearns-Sayre syndrome Kinsbourne syndrome Kleine-Levin syndrome Klippel Feil syndrome Krabbe ... ataxia Fibromyalgia Foville's syndrome Fetal alcohol syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ... Shaken baby syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Snatiation Sotos syndrome ...
*  Lynne M. Thomas
She and her husband have one daughter, Caitlin, who has Aicardi syndrome. Michael is a full-time caregiver to Caitin. Thomas ...
*  Corpus callosum
Some syndromes that are often associated with ACC are Aicardi syndrome, Andermann syndrome, Shapiro syndrome, and acrocallosal ... ACC is usually diagnosed within the first two years of life, and may manifest as a severe syndrome in infancy or childhood, as ... See also: Alien hand syndrome Alexia without agraphia (seen with damage to splenium of corpus callosum) Split-brain Septo-optic ... syndrome. ACC is usually not fatal. Treatment usually involves management of symptoms, such as hydrocephaly and seizures, if ...
*  Ribonuclease H
GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome RNase H at the US National Library of Medicine Medical Subject ... Orcesi S, La Piana R, Fazzi E (2009). "Aicardi-Goutieres syndrome". British Medical Bulletin. 89: 183-201. doi:10.1093/bmb/ ... Crow YJ, Manel N (July 2015). "Aicardi-Goutières syndrome and the type I interferonopathies". Nature Reviews. Immunology. 15 (7 ... August 2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral ...
*  Genetic disorder
In addition, although these conditions do not alter fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely ... Some X-linked dominant conditions, such as Rett syndrome, incontinentia pigmenti type 2, and Aicardi syndrome, are usually ... Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked ... X-linked recessive conditions can sometimes manifest in females due to skewed X-inactivation or monosomy X (Turner syndrome). Y ...
*  Jean Aicardi
Aicardi syndrome and Aicardi-Goutieres syndrome. Aicardi syndrome affects only females, and in very rare cases, males with ... Goutières F. Jean Aicardi. In: Arzimanoglou A, Goutières F, eds. Trends in Child Neurology. A Festschrift for Jean Aicardi. ... Montrouge, J. Libbey Eurotext 1986: 1-6 Jean François Marie Aicardi at Who Named It? Jean Aicardi ICNA (4 August 2015). " ... Jean (François Marie) Aicardi (8 November 1926 - 3 August 2015) was a French pediatric neurologist and epileptologist. He was ...
*  List of OMIM disorder codes
TREX1 Aicardi-Goutieres syndrome 2; 610181; RNASEH2B Aicardi-Goutieres syndrome 3; 610329; RNASEH2C Aicardi-Goutieres syndrome ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
*  Congenital vertebral anomaly
Aicardi syndrome, cleidocranial dysostosis, gastroschisis 3, Gorlin syndrome, fetal pyelectasis 3, Jarcho-Levin syndrome, OEIS ... It can lead to an abnormal angle in the spine, there are certain syndromes associated with block vertebrae; for example, ... Back pain associated with lumbosacral transitional vertebrae (LSTV) is known as Bertolotti's syndrome. One study found that ... Klippel-Feil syndrome. The sacrum is a normal block vertebra. Evidence for block vertebrae found in the fossil record is ...
*  Neopterin
A leukodystrophy called Aicardi-Goutieres syndrome depression and somatization. Neopterin concentrations usually correlate with ...
*  SAMHD1
GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome OMIM entries on Aicardi-Goutieres syndrome. ... 16 mutations in the SAMHD1 gene have been identified in patients with Aicardi-Goutieres syndrome. Mutations result in a SAMHD1 ... The SAMHD1 protein is also known as: AGS5: Aicardi- Goutières syndrome type 5 DCIP: Dendritic cell-derived IFNG-induced ... Powell RD, Holland PJ, Hollis T, Perrino FW (December 2011). "Aicardi-Goutieres syndrome gene and HIV-1 restriction factor ...
*  RNASEH2B
Mutations in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). Model organisms have been used in the study of ... Aug 2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral ... Crow YJ, Livingston JH (Jun 2008). "Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection". ... GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome. ... due to reduced RNaseH2 activity in Aicardi-Goutières Syndrome) ...
*  RNASEH2A
GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome OMIM entries on Aicardi-Goutieres syndrome. ... 2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain ... 2007). "Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome". Am. J. Hum. Genet. 81 (4): 713-25. doi:10.1086/521373 ... Mutations in this gene cause Aicardi-Goutieres syndrome (AGS), an autosomal recessive neurological disorder characterized by ...
*  CGAS-STING cytosolic DNA sensing pathway
An example of this occurs in Aicardi-Goutières syndrome (AGS). Mutations in the 3' repair exonuclease, TREX1, cause endogenous ...
*  TREX1
GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome OMIM entries on Aicardi-Goutieres syndrome. ... Goutières F, Aicardi J, Barth PG, Lebon P (1999). "Aicardi-Goutières syndrome: an update and results of interferon-alpha ... 2000). "Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21". Am. J. Hum. Genet ... Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB (1996). "The Aicardi-Goutières syndrome (familial, early onset ...
*  Jim C. Hines
"SF writers Jim C Hines and John Scalzi dress up as sexy female assassins to raise money for The Aicardi Syndrome Foundation" ...
*  Vertically transmitted infection
The genetic conditions of Aicardi-Goutieres syndrome are possibly present in a similar manner. The main routes of transmission ... "Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria". Brain and Development. 23 (1): 18-23. doi:10.1016/ ... "Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)". American ... Journal of Acquired Immune Deficiency Syndromes. 23 (3): 246-254. doi:10.1097/00042560-200003010-00006. ISSN 1525-4135. PMID ...
*  ADAR
... 1 is one of multiple genes which can contribute to Aicardi-Goutières syndrome when mutated. This is a genetic inflammatory ... November 2012). "Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature". Nature ... as well as Aicardi-Goutières syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been ...
*  RNASEH2C
Mutations in this gene are a cause of Aicardi-Goutieres syndrome type 3 (AGS3). This gene encodes a ribonuclease H subunit that ... Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene ... Aug 2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral ...
*  List of diseases (A)
Castillo syndrome Aicardi syndrome Aicardi-Goutières syndrome Aichmophobia AIDS AIDS dementia complex AIDS dysmorphic syndrome ... syndrome Aarskog-Ose-Pande syndrome Aarskog syndrome Aase-Smith syndrome Anti amnistic syndrome Aase syndrome ABCD syndrome ... syndrome Akesson syndrome Aksu-Stckhausen syndrome Al Awadi Teebi Farag syndrome Al Frayh Facharzt Haque syndrome Al Gazali Al ... Alien hand syndrome Alkaptonuria Allain-Babin-Demarquez syndrome Allan-Herndon-Dudley syndrome Allanson-Pantzar-McLeod syndrome ...
*  X-linked dominant inheritance
Some X-linked dominant conditions such as Aicardi Syndrome are fatal to boys, therefore only girls with these conditions ... syndrome Goltz syndrome X-linked dominant porphyria Fragile X syndrome X-linked hypophosphatemia Rett syndrome Sex linkage ... X-linked hypophosphatemia Rett syndrome (95% of cases are due to sporadic mutations) Most cases of Alport syndrome ... October 2003). "X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to ...
*  List of eponymously named diseases
Enrique Benjamin Del Castillo Aicardi syndrome - Jean Aicardi Aicardi-Goutières syndrome - Jean Aicardi, Francoise Goutieres ... Hakaru Hashimoto Havisham syndrome (a.k.a. Diogenes syndrome, Miss Havisham syndrome, and Plyushkin syndrome) - Miss Havisham, ... Havisham syndrome, Miss Havisham syndrome, Plyushkin syndrome)- Diogenes of Sinope (the particular usage, Diogenes syndrome, is ... syndrome - Moritz Simmonds Sipple's syndrome - John H. Sipple Sjögren's syndrome - Henrik Sjögren Sjögren-Larsson syndrome - ...
*  Frederick Andermann
Rasmussen's Syndrome"". Boston - London - Oxford, Butterworth-Heinemann 1991 Andermann F, Beaumanoir A, Mira L, et al, eds. ... From Basic to Clinical Science (Mariani Foundation Paediatric Neurology: 7). London, J. Libbey 1999 Guerrini R, Aicardi J, ... In 1972 and 1986 he described the syndromes lateron named after him together with his wife Eva (also a neurologist and ... Rasmussen's Syndrome. Boston - London - Oxford, Butterworth-Heinemann 1991 Andermann F, Rasmussen T, eds. Chronic Encephalitis ...
*  MDA5
Mutations in IFIH1/MDA5 are associated to Singleton-Merten Syndrome and to Aicardi-Goutières syndrome. Antibodies against MDA5 ... "A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome". American Journal of Human Genetics. 96 (2): 275- ...