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Items: 18

1.

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
2.

Epilepsy, Myoclonic

A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic. [from MeSH]

MedGen UID:
4988
Concept ID:
C0014550
Disease or Syndrome
3.

Seizure Disorders

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
4.

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
5.

Acid, Aminobutyric

MedGen UID:
113108
Concept ID:
C0220780
Amino Acid, Peptide, or Protein; Pharmacologic Substance
6.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
7.

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
8.

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
9.

Epileptic seizures - akinetic

MedGen UID:
138083
Concept ID:
C0347869
Disease or Syndrome
10.

Genetic predisposition

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
11.

Auras

MedGen UID:
65921
Concept ID:
C0236018
Finding
12.

Epilepsy, Cryptogenic

MedGen UID:
39409
Concept ID:
C0086237
Disease or Syndrome
13.

Atonic epilepsy

MedGen UID:
39408
Concept ID:
C0086236
Disease or Syndrome
14.

Unspecified encephalopathy

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
15.

Epileptic seizures - tonic

MedGen UID:
39186
Concept ID:
C0086241
Disease or Syndrome
16.

Disorder of brain

A non-neoplastic or neoplastic disorder that affects the brain. [from NCI]

MedGen UID:
14214
Concept ID:
C0006111
Disease or Syndrome
17.

Generalized epilepsy

MedGen UID:
4507
Concept ID:
C0014548
Disease or Syndrome
18.

Morphological abnormality of the central nervous system

MedGen UID:
3306
Concept ID:
C0007682
Disease or Syndrome
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