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SENEBAC
MCID: SZR029
MIFTS: 16
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Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications (SENEBAC)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications:
Name: Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications
56
6
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder death in childhood (in some patients) onset of seizures in the first months or years of life Classifications: |
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OMIM :
56
Early-onset seizures with neurodegeneration and brain calcifications (SENEBAC) is an autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals tend to have normal or mildly delayed development early in life, but show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Most require tube feeding; death in childhood may occur. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcifications, suggestive of abnormal neuroinflammation (summary by Smith et al., 2020 and Dong et al., 2020). (618875)
MalaCards based summary : Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications, is also known as seizures, early-onset, with neurodegeneration and brain calcification. An important gene associated with Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications is NRROS (Negative Regulator Of Reactive Oxygen Species). Affiliated tissues include brain and eye. |
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618875 |
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MalaCards organs/tissues related to Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications:40
Brain,
Eye
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Articles related to Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications:
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Genes related to Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications:6
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Search
GEO
for disease gene expression data for Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications.
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