MCID: RSM002
MIFTS: 17

Rasmussen Johnsen Thomsen Syndrome

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Rasmussen Johnsen Thomsen Syndrome

MalaCards integrated aliases for Rasmussen Johnsen Thomsen Syndrome:

Name: Rasmussen Johnsen Thomsen Syndrome 20 70
Rasmussen Syndrome 20 70
Inherited Congenital Bilateral Atresia of the External Auditory Canal, Congenital Bilateral Vertical Talus and Increased Interocular Distance 20
External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 70

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


External Ids:

UMLS 70 C0393484 C1876181 C2930867

Summaries for Rasmussen Johnsen Thomsen Syndrome

MalaCards based summary : Rasmussen Johnsen Thomsen Syndrome, also known as rasmussen syndrome, is related to external auditory canal, bilateral atresia of, with congenital vertical talus and reye syndrome. Affiliated tissues include cortex and t cells.

Related Diseases for Rasmussen Johnsen Thomsen Syndrome

Graphical network of the top 20 diseases related to Rasmussen Johnsen Thomsen Syndrome:



Diseases related to Rasmussen Johnsen Thomsen Syndrome

Symptoms & Phenotypes for Rasmussen Johnsen Thomsen Syndrome

Drugs & Therapeutics for Rasmussen Johnsen Thomsen Syndrome

Search Clinical Trials , NIH Clinical Center for Rasmussen Johnsen Thomsen Syndrome

Genetic Tests for Rasmussen Johnsen Thomsen Syndrome

Anatomical Context for Rasmussen Johnsen Thomsen Syndrome

MalaCards organs/tissues related to Rasmussen Johnsen Thomsen Syndrome:

40
Cortex, T Cells

Publications for Rasmussen Johnsen Thomsen Syndrome

Articles related to Rasmussen Johnsen Thomsen Syndrome:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Immunomodulation With Azathioprine Therapy in Rasmussen Syndrome: A Multimodal Evaluation. 61
33046614 2021
2
Language after childhood hemispherectomy: A systematic review. 61
33087498 2020
3
Efficacy and tolerability of mycophenolate mofetil in a pediatric Rasmussen syndrome. 61
32140679 2020
4
Rasmussen syndrome: absence seizures may be induced by oxcarbazepine. 61
30767898 2019
5
Rasmussen syndrome: an atypical presentation in ten patients. 61
30530407 2018
6
[Rasmussen syndrome: a clinicopathologic study of four cases]. 61
30220120 2018
7
Pre- and postsurgical cognitive trajectories and quantitative MRI changes in Rasmussen syndrome. 61
29750339 2018
8
Functional neuroimaging in Rasmussen syndrome. 61
29331846 2018
9
Frontal Lobe Decortication (Frontal Lobectomy with Ventricular Preservation) in Epilepsy-Part 1: Anatomic Landmarks and Surgical Technique. 61
27989972 2017
10
Systematic review of immunoglobulin use in paediatric neurological and neurodevelopmental disorders. 61
27900773 2017
11
Functional hemispherotomy in Rasmussen syndrome in the absence of classic MRI findings. 61
28239546 2017
12
Automated MRI Volumetric Analysis in Patients with Rasmussen Syndrome. 61
27609620 2016
13
Electrophysiological findings in Rasmussen's syndrome. 61
26892484 2016
14
Language after Hemispherotomy in Rasmussen Syndrome. 61
27053909 2016
15
Occluso-facial manifestations in a child with the Rasmussen syndrome and intercurrent Lyme disease--a case report. 61
26982755 2015
16
[Rasmussen syndrome (encephalitis)]. 61
26480767 2015
17
Semi-quantitative analyses of antibodies to N-methyl-d-aspartate type glutamate receptor subunits (GluN2B & GluN1) in the clinical course of Rasmussen syndrome. 61
25986190 2015
18
Rasmussen Syndrome and Other Inflammatory Epilepsies. 61
26060905 2015
19
Endoscopy-assisted interhemispheric transcallosal hemispherotomy: preliminary description of a novel technique. 61
25710106 2015
20
Spiradenoma and cylindroma originate from the hair follicle bulge and not from the eccrine sweat gland: an immunohistochemical study with CD200 and other stem cell markers. 61
25354097 2015
21
Abnormal visual field maps in human cortex: a mini-review and a case report. 61
23347557 2014
22
Timing of surgery in rasmussen syndrome: is patience a virtue? 61
24955069 2014
23
Genetic variations of immunoregulatory genes associated with Rasmussen syndrome. 61
24269013 2013
24
Theodore Brown Rasmussen (1910-2002). 61
23430164 2013
25
Clinical analysis of catastrophic epilepsy in infancy and early childhood: results of the Far-East Asia Catastrophic Epilepsy (FACE) study group. 61
23489890 2013
26
Immunomodulatory therapy versus surgery for Rasmussen syndrome in early childhood. 61
23433490 2013
27
Rasmussen syndrome: an Argentinean experience in 32 patients. 61
23466213 2013
28
[Antibodies to the glutamate receptor]. 61
23568982 2013
29
[Present and future of the transcranial magnetic stimulation]. 61
23781715 2013
30
[From the beginning of a continuous partial epilepsy to the diagnosis and treatment of Rasmussen's syndrome]. 61
22709797 2012
31
Epilepsia partialis continua in tick-borne Russian spring-summer encephalitis. 61
21770904 2012
32
Scalp EEG does not predict hemispherectomy outcome. 61
21813300 2011
33
Hemispherectomy in pediatric patients with epilepsy: a study of 45 cases with special emphasis on epileptic syndromes. 61
21947090 2011
34
Temporal changes in brain MRI findings in Rasmussen syndrome. 61
21926050 2011
35
Clinical course and variability of non-Rasmussen, nonstroke motor and sensory epilepsia partialis continua: a European survey and analysis of 65 cases. 61
21320117 2011
36
Neuroimaging and neuropathology of Dravet syndrome. 61
21463276 2011
37
Anti-NMDA receptor encephalitis presenting with imaging findings and clinical features mimicking Rasmussen syndrome. 61
21146427 2011
38
Kozhevnikov epilepsy: the disease and its eponym. 61
21204824 2011
39
Teaching NeuroImages: long-term outcome of untreated Rasmussen syndrome. 61
21079177 2010
40
Eponym : Rasmussen syndrome. 61
20177700 2010
41
Noninvasive multimodal neuroimaging for Rasmussen encephalopathy surgery: simultaneous EEG-fMRI recording. 61
20722352 2010
42
Correlation between magnetic resonance imaging and histopathologic grades in Rasmussen syndrome. 61
20159425 2010
43
Perfusion SPECT findings in a suspected case of Rasmussen encephalitis. 61
19021826 2009
44
Rasmussen syndrome combined with IgA deficiency and membranous nephropathy. 61
19433284 2009
45
A substantial number of Rasmussen syndrome patients have increased IgG, CD4+ T cells, TNFalpha, and Granzyme B in CSF. 61
19175398 2009
46
[Rasmussen encephalitis and non-herpetic acute limbic encephalitis]. 61
18409535 2008
47
Rasmussen encephalitis. 61
18454904 2008
48
Limited chronic focal encephalitis: another variant of Rasmussen syndrome? 61
18227418 2008
49
[Clinical characteristics and treatment of Rasmussen syndrome in 16 children]. 61
18021566 2007
50
A case of unilateral hemispheric encephalitis. 61
17690849 2007

Variations for Rasmussen Johnsen Thomsen Syndrome

Expression for Rasmussen Johnsen Thomsen Syndrome

Search GEO for disease gene expression data for Rasmussen Johnsen Thomsen Syndrome.

Pathways for Rasmussen Johnsen Thomsen Syndrome

GO Terms for Rasmussen Johnsen Thomsen Syndrome

Sources for Rasmussen Johnsen Thomsen Syndrome

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61 PubMed
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71 UMLS via Orphanet
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