Undetermined early-onset epileptic encephalopathy

MedGen UID:: 1826068
•Concept ID:: C5680057
•: Disease or Syndrome

Synonyms:	Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; undetermined early-onset epileptic encephalopathy; Undetermined EOEE; undetermined EOEE
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet) X-linked recessive inheritance (Orphanet) Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0018614
Orphanet:	ORPHA442835

Definition

A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Undetermined early-onset epileptic encephalopathy

Infantile epilepsy syndrome
- Undetermined early-onset epileptic encephalopathy

Recent clinical studies

Etiology

Alzheimer's Disease Including Focal Presentations.

Villain N, Dubois B
Semin Neurol 2019 Apr;39(2):213-226. Epub 2019 Mar 29 doi: 10.1055/s-0039-1681041. PMID: 30925614

Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease.

Kasuga K, Shimohata T, Nishimura A, Shiga A, Mizuguchi T, Tokunaga J, Ohno T, Miyashita A, Kuwano R, Matsumoto N, Onodera O, Nishizawa M, Ikeuchi T
J Neurol Neurosurg Psychiatry 2009 Sep;80(9):1050-2. doi: 10.1136/jnnp.2008.161703. PMID: 19684239

Mental retardation subsequent to refractory partial seizures in infancy.

Kramer U, Fattal A, Nevo Y, Leitner Y, Harel S
Brain Dev 2000 Jan;22(1):31-4. doi: 10.1016/s0387-7604(99)00109-6. PMID: 10761831

See all (3)

Diagnosis

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.

Kunii M, Doi H, Hashiguchi S, Matsuishi T, Sakai Y, Iai M, Okubo M, Nakamura H, Takahashi K, Katsumoto A, Tada M, Takeuchi H, Ishikawa T, Miyake N, Saitsu H, Matsumoto N, Tanaka F
J Neurol Sci 2020 Sep 15;416:117047. Epub 2020 Jul 17 doi: 10.1016/j.jns.2020.117047. PMID: 32736238

Alzheimer's Disease Including Focal Presentations.

Villain N, Dubois B
Semin Neurol 2019 Apr;39(2):213-226. Epub 2019 Mar 29 doi: 10.1055/s-0039-1681041. PMID: 30925614

The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.

Liu A, Xu X, Yang X, Jiang Y, Yang Z, Liu X, Wu Y, Wu X, Wei L, Zhang Y
Clin Genet 2017 Jan;91(1):54-62. Epub 2016 Nov 7 doi: 10.1111/cge.12846. PMID: 27527380

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N
Brain Dev 2016 Mar;38(3):285-92. Epub 2015 Oct 23 doi: 10.1016/j.braindev.2015.09.011. PMID: 26482601

Epilepsy in the elderly.

Hiyoshi T, Yagi K
Epilepsia 2000;41 Suppl 9:31-5. doi: 10.1111/j.1528-1157.2000.tb02217.x. PMID: 11156508

See all (5)