Format

Send to:

Choose Destination
  • CN244926 has been replaced by C4693810, showing C4693810

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63(EIEE63)

MedGen UID:
1646846
Concept ID:
C4693810
Disease or Syndrome
Synonyms: EIEE63
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): CPLX1 (4p16.3)
OMIM®: 617976

Clinical features

From HPO
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Epileptic encephalopathy
MedGen UID:
452596
Concept ID:
C0543888
Disease or Syndrome
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Inability to walk
MedGen UID:
107860
Concept ID:
C0560046
Finding
Incapability to ambulate.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Generalized myoclonic seizures
MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal).
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Overlapping toe
MedGen UID:
182531
Concept ID:
C0920299
Anatomical Abnormality
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Overlapping toe
MedGen UID:
182531
Concept ID:
C0920299
Anatomical Abnormality
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Midface retrusion
MedGen UID:
388629
Concept ID:
C2673410
Finding
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Recent clinical studies

Etiology

O'Callaghan FJK, Edwards SW, Alber FD, Cortina Borja M, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay MT, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP; International Collaborative Infantile Spasms Study (ICISS) investigators.
Lancet Child Adolesc Health 2018 Oct;2(10):715-725. Epub 2018 Aug 29 doi: 10.1016/S2352-4642(18)30244-X. PMID: 30236380
Zhang Y, Kong W, Gao Y, Liu X, Gao K, Xie H, Wu Y, Zhang Y, Wang J, Gao F, Wu X, Jiang Y
PLoS One 2015;10(11):e0141782. Epub 2015 Nov 6 doi: 10.1371/journal.pone.0141782. PMID: 26544041Free PMC Article
Fukasawa T, Suzuki M, Kato T, Hayakawa F, Miura K, Kidokoro H, Kubota T, Okumura A, Maruyama K, Hishikawa Y, Itomi K, Negoro T, Watanabe K, Natsume J
Brain Dev 2014 Oct;36(9):752-7. Epub 2013 Nov 15 doi: 10.1016/j.braindev.2013.10.011. PMID: 24246311
Zou LP, Wang X, Dong CH, Chen CH, Zhao W, Zhao RY
Clin Ther 2010 Apr;32(4):692-700. doi: 10.1016/j.clinthera.2010.04.008. PMID: 20435238

Diagnosis

O'Callaghan FJK, Edwards SW, Alber FD, Cortina Borja M, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay MT, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP; International Collaborative Infantile Spasms Study (ICISS) investigators.
Lancet Child Adolesc Health 2018 Oct;2(10):715-725. Epub 2018 Aug 29 doi: 10.1016/S2352-4642(18)30244-X. PMID: 30236380
Yin X, Tang B, Mao X, Peng J, Zeng S, Wang Y, Jiang H, Li N
J Hum Genet 2018 Sep;63(9):971-980. Epub 2018 Jun 18 doi: 10.1038/s10038-018-0478-z. PMID: 29915213
Song JM, Hahn J, Kim SH, Chang MJ
Clin Neuropharmacol 2017 Mar/Apr;40(2):63-84. doi: 10.1097/WNF.0000000000000200. PMID: 28288483
Zhang Y, Kong W, Gao Y, Liu X, Gao K, Xie H, Wu Y, Zhang Y, Wang J, Gao F, Wu X, Jiang Y
PLoS One 2015;10(11):e0141782. Epub 2015 Nov 6 doi: 10.1371/journal.pone.0141782. PMID: 26544041Free PMC Article
Fukasawa T, Suzuki M, Kato T, Hayakawa F, Miura K, Kidokoro H, Kubota T, Okumura A, Maruyama K, Hishikawa Y, Itomi K, Negoro T, Watanabe K, Natsume J
Brain Dev 2014 Oct;36(9):752-7. Epub 2013 Nov 15 doi: 10.1016/j.braindev.2013.10.011. PMID: 24246311

Therapy

O'Callaghan FJK, Edwards SW, Alber FD, Cortina Borja M, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay MT, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP; International Collaborative Infantile Spasms Study (ICISS) investigators.
Lancet Child Adolesc Health 2018 Oct;2(10):715-725. Epub 2018 Aug 29 doi: 10.1016/S2352-4642(18)30244-X. PMID: 30236380
Yin X, Tang B, Mao X, Peng J, Zeng S, Wang Y, Jiang H, Li N
J Hum Genet 2018 Sep;63(9):971-980. Epub 2018 Jun 18 doi: 10.1038/s10038-018-0478-z. PMID: 29915213
Song JM, Hahn J, Kim SH, Chang MJ
Clin Neuropharmacol 2017 Mar/Apr;40(2):63-84. doi: 10.1097/WNF.0000000000000200. PMID: 28288483
Coppola A, Moshé SL
Handb Clin Neurol 2012;107:63-98. doi: 10.1016/B978-0-444-52898-8.00004-5. PMID: 22938964
Zou LP, Wang X, Dong CH, Chen CH, Zhao W, Zhao RY
Clin Ther 2010 Apr;32(4):692-700. doi: 10.1016/j.clinthera.2010.04.008. PMID: 20435238

Prognosis

Fukasawa T, Suzuki M, Kato T, Hayakawa F, Miura K, Kidokoro H, Kubota T, Okumura A, Maruyama K, Hishikawa Y, Itomi K, Negoro T, Watanabe K, Natsume J
Brain Dev 2014 Oct;36(9):752-7. Epub 2013 Nov 15 doi: 10.1016/j.braindev.2013.10.011. PMID: 24246311
Zou LP, Wang X, Dong CH, Chen CH, Zhao W, Zhao RY
Clin Ther 2010 Apr;32(4):692-700. doi: 10.1016/j.clinthera.2010.04.008. PMID: 20435238

Clinical prediction guides

O'Callaghan FJK, Edwards SW, Alber FD, Cortina Borja M, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay MT, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP; International Collaborative Infantile Spasms Study (ICISS) investigators.
Lancet Child Adolesc Health 2018 Oct;2(10):715-725. Epub 2018 Aug 29 doi: 10.1016/S2352-4642(18)30244-X. PMID: 30236380
Fukasawa T, Suzuki M, Kato T, Hayakawa F, Miura K, Kidokoro H, Kubota T, Okumura A, Maruyama K, Hishikawa Y, Itomi K, Negoro T, Watanabe K, Natsume J
Brain Dev 2014 Oct;36(9):752-7. Epub 2013 Nov 15 doi: 10.1016/j.braindev.2013.10.011. PMID: 24246311
Canavese C, Canafoglia L, Costa C, Zibordi F, Zorzi G, Binelli S, Franceschetti S, Nardocci N
Dev Med Child Neurol 2012 Apr;54(4):334-8. Epub 2012 Jan 28 doi: 10.1111/j.1469-8749.2011.04217.x. PMID: 22283661

Recent systematic reviews

Song JM, Hahn J, Kim SH, Chang MJ
Clin Neuropharmacol 2017 Mar/Apr;40(2):63-84. doi: 10.1097/WNF.0000000000000200. PMID: 28288483

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center