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1.

Autosomal dominant partial epilepsy with auditory features

MedGen UID:
419419
Concept ID:
C2931469
Disease or Syndrome
2.

Focal epilepsy

Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317) [from MeSH]

MedGen UID:
41836
Concept ID:
C0014547
Disease or Syndrome
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.

Epilepsy, lateral temporal lobe, autosomal dominant

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an idiopathic focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g., volume changes) or complex sounds (e.g., specific songs or voices). Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic), or motor, psychic, and autonomic symptoms. Most affected individuals have secondarily generalized seizures, usually accompanied by simple partial and complex partial seizures, with auditory symptoms as a major simple partial seizure manifestation. Some persons have seizures precipitated by sounds such as a ringing telephone. Age at onset ranges from four to 50 years but is usually in adolescence or early adulthood. The clinical course of ADPEAF is benign. Seizures are usually well controlled after initiation of medical therapy. [from GeneReviews]

MedGen UID:
325326
Concept ID:
C1838062
Disease or Syndrome
5.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
6.

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
7.

Receptive aphasia (finding)

MedGen UID:
141566
Concept ID:
C0454578
Mental or Behavioral Dysfunction
8.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
9.

Glioma

The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). [from HPO]

MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
10.

Aphasia

Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write, and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries, and dementia can also cause it. The type of problem you have and how bad it is depends on which part of your brain is damaged and how much damage there is. . There are four main types:. - Expressive aphasia - you know what you want to say, but you have trouble saying or writing what you mean . - Receptive aphasia - you hear the voice or see the print, but you can't make sense of the words . - Anomic aphasia - you have trouble using the correct word for objects, places, or events . - Global aphasia - you can't speak, understand speech, read, or write . Some people recover from aphasia without treatment. Most, however, need language therapy as soon as possible. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
8159
Concept ID:
C0003537
Mental or Behavioral Dysfunction
11.

Leucine

Amino acid with side chain -CH2CH(CH3)2. [from NCI]

MedGen UID:
7312
Concept ID:
C0023401
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
12.

Autosomal dominant epilepsy with auditory features

MedGen UID:
891803
Concept ID:
CN197422
Disease or Syndrome
13.

Focal epilepsy

MedGen UID:
832941
Concept ID:
CN228295
Finding
14.

Epilepsy syndrome

MedGen UID:
798632
Concept ID:
CN200061
Disease or Syndrome
15.

Rapidly involuting congenital hemangioma

MedGen UID:
698687
Concept ID:
C1275421
Congenital Abnormality; Neoplastic Process
16.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
17.

Glioma

The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). [from HPO]

MedGen UID:
506305
Concept ID:
CN008593
Finding
18.

Triggered by

In medicine, a specific event that starts a process or that causes a particular outcome. For example, chemotherapy, painful treatments, or the smells, sounds, and sights that go with them may trigger anxiety and fear in a patient who has cancer. In allergies, exposure to mold, pollen or dust may trigger sneezing, watery eyes, and coughing. [from NCI]

MedGen UID:
252950
Concept ID:
C1444748
Qualitative Concept
19.

Impairment

Loss or abnormality of psychological, physiological, or anatomic structure or function. [from NCI]

MedGen UID:
151925
Concept ID:
C0684336
Finding; Pathologic Function
20.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
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