DISEASE: Developmental delay with or without epilepsy
Entry
H02989 Disease
Name
Developmental delay with or without epilepsy
Description
Developmental delay with or without epilepsy (DEVEP) is a clinically heterogeneous neurodevelopmental disorder characterized by milder phenotypes of developmental delay with or without seizures. DEVEP is one part of the phenotypic spectrum caused by SPTAN1 variants.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Other disorders of the nervous system
8E4Y Other specified disorders of the nervous system
H02989 Developmental delay with or without epilepsy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06546 IgSF CAM signaling
H02989 Developmental delay with or without epilepsy
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonniere R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabo A, Sumegi K, Cossee M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H
Title
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
