MCID: INF141
MIFTS: 5

Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

MalaCards integrated aliases for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression:

Name: Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression 55

Characteristics:

Orphanet epidemiological data:

55
infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA391316
ICD10 via Orphanet 33 G40.2

Summaries for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

MalaCards based summary : Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression An important gene associated with Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression is TNK2 (Tyrosine Kinase Non Receptor 2). Affiliated tissues include temporal lobe.

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Symptoms & Phenotypes for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

Drugs & Therapeutics for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

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Genetic Tests for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

Anatomical Context for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

MalaCards organs/tissues related to Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression:

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Temporal Lobe

Publications for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

Variations for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

Expression for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

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GO Terms for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

Sources for Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe...

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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69 UMLS
70 UMLS via Orphanet
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