Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 41

1.

Lafora disease

Lafora disease (LD) is characterized by fragmentary, symmetric, or generalized myoclonus and/or generalized tonic-clonic seizures, visual hallucinations (occipital seizures), and progressive neurologic degeneration including cognitive and/or behavioral deterioration, dysarthria, and ataxia beginning in previously healthy adolescents between ages 12 and 17 years. The frequency and intractability of seizures increase over time. Status epilepticus is common. Emotional disturbance and confusion are common at or soon after onset of seizures and are followed by dementia. Dysarthria and ataxia appear early, spasticity late. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to nervous system degeneration. [from GeneReviews]

MedGen UID:
155631
Concept ID:
C0751783
Disease or Syndrome
2.

Myoclonus

Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3). [from MeSH]

MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
3.

Seizure Disorders

Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

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

Accumulation

An increase of substance (e.g., proteinaceous fluid and glycogen) in either the intracellular space, extracellular space, or within a hollow organ or structure. [from NCI_CDISC]

MedGen UID:
883922
Concept ID:
C4055506
Finding
5.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
6.

Lafora bodies

An intraneuronal inclusion body composed of acid mucopolysaccharides. [from HPO]

MedGen UID:
569348
Concept ID:
C0333749
Cell Component
7.

Progressive myoclonic epilepsy

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). [from HPO]

MedGen UID:
199732
Concept ID:
C0751778
Disease or Syndrome
8.

Autosomal recessive inheritance

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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
9.

Lesion

An area of abnormal tissue. A lesion may be benign (not cancer) or malignant (cancer). [from NCI]

MedGen UID:
65128
Concept ID:
C0221198
Finding
10.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
11.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
12.

Stress

Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress:. -Routine stress related to the pressures of work, family, and other daily responsibilities. -Stress brought about by a sudden negative change, such as losing a job, divorce, or illness. -Traumatic stress, which happens when you are in danger of being seriously hurt or killed. Examples include a major accident, war, assault, or a natural disaster. This type of stress can cause post-traumatic stress disorder (PTSD). Different people may feel stress in different ways. Some people experience digestive symptoms. Others may have headaches, sleeplessness, depressed mood, anger, and irritability. People under chronic stress get more frequent and severe viral infections, such as the flu or common cold. Vaccines, such as the flu shot, are less effective for them. Some people cope with stress more effectively than others. It's important to know your limits when it comes to stress, so you can avoid more serious health effects. NIH: National Institute of Mental Health.  [from MedlinePlus]

MedGen UID:
20971
Concept ID:
C0038435
Finding
13.

Seizures

Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
14.

Peptide Biosynthesis

The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. [CHEBI:16670, GOC:dph, GOC:jl] [from GO]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
15.

Protein Modification, Translational

Any of the enzymatically catalyzed modifications of the individual AMINO ACIDS of PROTEINS, and enzymatic cleavage or crosslinking of peptide chains that occur pre-translationally (on the amino acid component of AMINO ACYL TRNA), co-translationally (during the process of GENETIC TRANSLATION), or after translation is completed (POST-TRANSLATIONAL PROTEIN PROCESSING). [from MeSH]

MedGen UID:
260537
Concept ID:
C1449566
Molecular Function
16.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
17.

Myoclonic epilepsy, familial infantile

TBC1D24-related disorders comprise a continuum that includes the following 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
18.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
19.

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
20.

Genetic translation

ribosome mediated process by which polypeptide chains are synthesized, the aminoacid sequence being completely determined by the sequence of bases in a messenger RNA, which in turn is determined by the sequences of bases in the DNA of the gene from which it was transcribed. [from CRISP]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
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