KEGG DISEASE: Early-onset epilepsy

DISEASE: Early-onset epilepsy

Entry

H02696                      Disease

Name

Early-onset epilepsy

Subgroup

Early-onset vitamin B6-dependent epilepsy [DS:H02250]
Pyridoxine-dependent epilepsy [DS:H01247]

Description

Early-onset epilepsy (EPEO) is a neurological abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders in the brain. Several genetic causes have been reported.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H02696  Early-onset epilepsy

Gene

(EPEO1) PLPBP [HSA:11212] [KO:K06997]
(EPEO2) SETD1A [HSA:9739] [KO:K11422]
(EPEO3) ATP6V0C [HSA:527] [KO:K02155]
(EPEO4) ALDH7A1 [HSA:501] [KO:K14085]

Other DBs

ICD-11:

8A61.0Y

OMIM:

617290 618832 620465 266100

Reference

PMID:27912044 (EPEO1)

Authors

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crecy-Lagard V, Mills PB, Clayton PT

Title

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Journal

Am J Hum Genet 99:1325-1337 (2016)
DOI:10.1016/j.ajhg.2016.10.011

Reference

PMID:31197650 (EPEO2)

Authors

Yu X, Yang L, Li J, Li W, Li D, Wang R, Wu K, Chen W, Zhang Y, Qiu Z, Zhou W

Title

De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.

Journal

Neurosci Bull 35:1045-1057 (2019)
DOI:10.1007/s12264-019-00400-w

Reference

PMID:37161035 (EPEO3)

Authors

Zhao S, Zhang X, Yang L, Wang Y, Jia S, Li X, Wang Z, Yang F, Liang M, Wang X, Wang D

Title

ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.

Journal

J Hum Genet 68:589-597 (2023)
DOI:10.1038/s10038-023-01145-1

Reference

PMID:17068770 (EPEO4)

Authors

Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W

Title

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

Journal

Hum Mutat 28:19-26 (2007)
DOI:10.1002/humu.20433

LinkDB

» Japanese version

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