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1.

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
2.

Functional disorder

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
Pathologic Function; Qualitative Concept
3.

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
4.

Encephalopathy, Febrile

MedGen UID:
895000
Concept ID:
C4280049
Disease or Syndrome
5.

Convulsions

MedGen UID:
885903
Concept ID:
C4048158
Sign or Symptom
6.

Generalized epilepsy with febrile seizures plus

A rare, genetically heterogeneous disorder caused by mutations in the SCN1A, GABRG2, GABRD, SCN9A, or STX1B genes. It is characterized by early childhood onset febrile seizures, generalized tonic-clonic seizures, absence seizures, myoclonic seizures, and atonic seizures [from NCI]

MedGen UID:
503203
Concept ID:
C3502809
Disease or Syndrome
7.

Aminobutyric Acid

MedGen UID:
113108
Concept ID:
C0220780
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
8.

Acetylcholine

A chemical made by some types of nerve cells. It is used to send messages to other cells, including other nerve cells, muscle cells, and gland cells. It is released from the nerve ending and carries signals to cells on the other side of a synapse (space between nerve cells and other cells). Acetylcholine helps control memory and the action of certain muscles. It is a type of neurotransmitter. [from NCI]

MedGen UID:
7841
Concept ID:
C0001041
Biologically Active Substance; Neuroreactive Substance or Biogenic Amine; Organic Chemical; Pharmacologic Substance
9.

Convulsions

MedGen UID:
3231
Concept ID:
C0009951
Disease or Syndrome; Sign or Symptom
10.

Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present. [from NCI]

MedGen UID:
859583
Concept ID:
C3899989
Disease or Syndrome
11.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
12.

Benign familial neonatal seizures

Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness.A test called an electroencephalogram (EEG) is used to measure the electrical activity of the brain. Abnormalities on an EEG test, measured during no seizure activity, can indicate a risk for seizures. However, infants with BFNS usually have normal EEG readings. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. By age 2, most affected individuals who had EEG abnormalities have a normal EEG reading.Typically, seizures are the only symptom of BFNS, and most people with this condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small percentage of people with BFNS also have a condition called myokymia, which is an involuntary rippling movement of the muscles. In addition, in about 15 percent of people with BFNS, recurrent seizures (epilepsy) will come back later in life after the seizures associated with BFNS have gone away. The age that epilepsy begins is variable.
[from GHR]

MedGen UID:
830998
Concept ID:
CN200689
Disease or Syndrome
13.

Generalized epilepsy with febrile seizures-plus

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms). [from ORDO]

MedGen UID:
797858
Concept ID:
CN204737
Disease or Syndrome
14.

Generalized epilepsy with febrile seizures plus, type 8

Generalized epilepsy with febrile seizures-plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Seizure phenotypes include classic infantile febrile seizures, febrile seizures persisting beyond age 6 years or accompanied by afebrile generalized tonic-clonic seizures (GTCS), generalized or localization-related epilepsy, and more rarely, severe seizures with encephalopathy (summary by Poduri et al., 2009). For a discussion of genetic heterogeneity of GEFS+, see 604233. [from OMIM]

MedGen UID:
462541
Concept ID:
C3151191
Disease or Syndrome
15.

Febrile seizures

MedGen UID:
377883
Concept ID:
C1853346
Finding
16.

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
17.

Nocturnal

The time in every 24 hour period when it is dark. [from NCI]

MedGen UID:
68706
Concept ID:
C0240526
Temporal Concept
18.

Frontal lobe epilepsy

A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Simple or complex motor movements may occur, and most commonly involve the face and upper extremities. Seizures in the anterior frontal regions may be associated with head and eye turning, typically away from the side of origin of the seizure. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9) [from MeSH]

MedGen UID:
39074
Concept ID:
C0085541
Disease or Syndrome
19.

Generalized epilepsy

Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14) [from MeSH]

MedGen UID:
4507
Concept ID:
C0014548
Disease or Syndrome
20.

Febrile seizures

Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two. [from HPO]

MedGen UID:
3232
Concept ID:
C0009952
Disease or Syndrome
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