Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 27

1.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
2.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
3.

Severe myoclonic epilepsy in infancy

SCN1A-related seizure disorders encompass a spectrum that ranges from simple febrile seizures (FS) and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome (also known as severe myoclonic epilepsy in infancy [SMEI] or polymorphic myoclonic epilepsy in infancy [PMEI]) are usually associated with progressive dementia. Less commonly observed phenotypes include myoclonic-astatic epilepsy (MAE or Doose syndrome), Lennox-Gastaut syndrome (LGS), infantile spasms, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A-related seizure disorders can vary even within the same family. [from GeneReviews]

MedGen UID:
148243
Concept ID:
C0751122
Disease or Syndrome
4.

Possible

Capable of happening or occurring. [from NCI]

MedGen UID:
137646
Concept ID:
C0332149
Finding
5.

Recurrence

The return of a sign, symptom, or disease after a remission. [from MeSH]

MedGen UID:
416712
Concept ID:
C2825055
Pathologic Function
6.

Seizure Disorders

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
7.

Mosaicism

The presence of more than one genetically distinct cell line in germ and/or somatic cells. [from NCI]

MedGen UID:
452472
Concept ID:
C0392053
Cell or Molecular Dysfunction
8.

Somatic mosaicism

The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. [from HPO]

MedGen UID:
356183
Concept ID:
C1866227
Finding
9.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
10.

Epileptic Syndromes

EPILEPTIC SEIZURES that are of similar type and age of onset and have other similar features (e.g., clinical course, EEG findings, genetic association and neuropathology). [from MeSH]

MedGen UID:
1371141
Concept ID:
C4505072
Disease or Syndrome
11.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
12.

Myoclonic epilepsy, familial infantile

TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). Profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability/developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME). Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies. [from GeneReviews]

MedGen UID:
181488
Concept ID:
C0917800
Disease or Syndrome
13.

Epileptic seizures - akinetic

MedGen UID:
138083
Concept ID:
C0347869
Disease or Syndrome
14.

Genetic predisposition

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
15.

Auras

MedGen UID:
65921
Concept ID:
C0236018
Finding
16.

Epilepsy, Cryptogenic

MedGen UID:
39409
Concept ID:
C0086237
Disease or Syndrome
17.

Atonic epilepsy

MedGen UID:
39408
Concept ID:
C0086236
Disease or Syndrome
18.

Unspecified encephalopathy

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
19.

Epileptic seizures - tonic

MedGen UID:
39186
Concept ID:
C0086241
Disease or Syndrome
20.

Disorder of nervous system

A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. [from NCI]

MedGen UID:
14336
Concept ID:
C0027765
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center