Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications (SENEBAC)

External Ids:

OMIM® 57 618875 MeSH 44 D004827 D019636

MedGen 41 C5394359 CN280930 SNOMED-CT via HPO 68 128613002 204043002 224958001 230769007 246545002 258211005 278849000 313307000 418143002 52522001 84757009 91175000 more

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

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, and related phenotypes are global developmental delay and hypoplasia of the corpus callosum

UniProtKB/Swiss-Prot : ⁷³ Seizures, early-onset, with neurodegeneration and brain calcification: An autosomal recessive neurodegenerative disorder clinically characterized by refractory seizures apparent in the first year of life, mild early developmental delay, and developmental regression after seizure onset. Other features include hypotonia, hyperreflexia, peripheral spasticity, poor eye contact, absent speech, poor head control, and inability to walk. Brain imaging shows reduced white matter volume with delayed myelination, and punctate calcifications.

Clinical features from OMIM®:

618875 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications

Search GEO for disease gene expression data for Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications.