Developmental and Epileptic Encephalopathy 12 (DEE12)

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Disease Ontology 12 DOID:0080459 OMIM® 57 613722 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C3150988 SNOMED-CT via HPO 68 221360009 246545002 258211005 28055006 29753000 397790002 86854008 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-12 (DEE12) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first year of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show severe developmental regression and stagnation. Seizure types vary: focal seizures, infantile spasms, and generalized tonic-clonic seizures may occur, even within the same patient. EEG may show hypsarrhythmia, consistent with West syndrome, or a pattern consistent with 'malignant migrating partial seizures in infancy' (MMPSI). Patients have little or no developmental progress: there is absent speech, hypotonia, poor motor skills, peripheral spasticity, and impaired visual fixation (summary by Kurian et al., 2010 and Poduri et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350. (613722) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 12, also known as early infantile epileptic encephalopathy 12, is related to alagille syndrome 1 and isolated macular dystrophy, and has symptoms including muscle spasticity An important gene associated with Developmental and Epileptic Encephalopathy 12 is PLCB1 (Phospholipase C Beta 1). Affiliated tissues include eye, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has material basis in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.

GARD : ²⁰ Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 12: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.

Clinical features from OMIM®:

613722 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 12

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 12.