Developmental and Epileptic Encephalopathy 55 (DEE55)

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Disease Ontology 12 DOID:0080283 OMIM® 57 617599 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C4539843 CN368511 SNOMED-CT via HPO 68 128613002 203598005 204043002 224958001 246545002 258211005 271611007 276617005 27911000 28055006 282145008 298181000 298203008 31216003 313307000 36649002 385522000 412786000 413924001 444896005 55033002 57048009 59576002 68574006 78164000 7890003 84757009 88565003 91175000 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-55 (DEE55) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks or months of life. Affected individuals have an extremely poor outcome, with profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements. Most have cortical visual impairment and require a feeding tube. Brain imaging shows nonspecific abnormalities, including cerebral atrophy, thin corpus callosum, and abnormal signals in the white matter. Death in childhood may occur. Biochemically, the disorder is associated with impaired synthesis of GPI-anchored proteins (summary by Vetro et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (617599) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 55, is also known as glycosylphosphatidylinositol biosynthesis defect 14. An important gene associated with Developmental and Epileptic Encephalopathy 55 is PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P). Affiliated tissues include eye, and related phenotypes are clonus and global developmental delay

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 55: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE55 is an autosomal recessive condition.

Clinical features from OMIM®:

617599 (Updated 05-Mar-2021)

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