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1.

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
2.

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
3.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
4.

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
5.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
6.

Febrile seizures

MedGen UID:
377883
Concept ID:
C1853346
Finding
7.

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
8.

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
9.

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
10.

Fever

A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system. Infections cause most fevers. There can be many other causes, including. - Medicines. - Heat exhaustion. - Cancers. - Autoimmune diseases. Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.  [from MedlinePlus]

MedGen UID:
5169
Concept ID:
C0015967
Finding
11.

Focal seizures

Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere. [from HPO]

MedGen UID:
506060
Concept ID:
CN006440
Finding
12.

Generalized seizures

Seizures of with initial involvement of both cerebral hemispheres. [from HPO]

MedGen UID:
505153
Concept ID:
CN001992
Finding
13.

Generalized epilepsy with febrile seizures plus, type 6

MedGen UID:
394198
Concept ID:
C2677078
Disease or Syndrome
14.

Febrile seizures, familial, 2

MedGen UID:
355446
Concept ID:
C1865342
Disease or Syndrome
15.

Febrile seizures, familial, 1

Childhood seizures associated with febrile episodes are relatively common and represent the majority of childhood seizures. A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause (Nabbout et al., 2002). Although the majority of patients do not develop epilepsy, the risk of developing subsequent afebrile seizures is 5 to 7 times higher in those with a history of febrile seizures compared to the general population (Annegers et al., 1987; Hedera et al., 2006). The FEB1 locus maps to chromosome 8q13-q21. Genetic Heterogeneity of Familial Febrile Seizures FEB3A (604403) is caused by mutation in the SCN1A gene (182389) on chromosome 2q24; FEB3B (see 604403) is caused by mutation in the SCN9A gene (603415) on chromosome 2q24; FEB4 (604352) is caused by mutation in the GPR98 gene (602851) on chromosome 5q14; FEB8 (611277) is caused by mutation in the GABRG2 gene (137164) on chromosome 5q31; and FEB11 (614418) is caused by mutation in the CPA6 gene (609562) on chromosome 8q13. Several loci for familial febrile seizures have been identified: see FEB2 (602477) on chromosome 19p, FEB5 (609255) on chromosome 6q, FEB6 (609253) on chromosome 18p, FEB7 (611515) on chromosome 21q22, FEB9 (611634) on chromosome 3p24.2-p23, and FEB10 (612637) on chromosome 3q26. A phenotype termed 'generalized epilepsy with febrile seizures plus' (GEFS+; 604233) is a clinical subset of familial febrile convulsions in which affected individuals later develop afebrile seizures. GEFS+ is associated with mutations in several genes. Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. [from OMIM]

MedGen UID:
338959
Concept ID:
C1852577
Disease or Syndrome
16.

Incomplete penetrance

A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. [from HPO]

MedGen UID:
332247
Concept ID:
C1836598
Finding
17.

variable phenotype

A variability of phenotypic features. [from HPO]

MedGen UID:
324814
Concept ID:
C1837514
Finding
18.

Generalized seizures

Seizures of with initial involvement of both cerebral hemispheres. [from HPO]

MedGen UID:
115963
Concept ID:
C0234533
Disease or Syndrome
19.

Complex febrile seizures

Febrile seizures with focal semiology, duration of more than 15 minutes, or occurring in a cluster of 2 or more convulsions within 24 hours. [from HPO]

MedGen UID:
155493
Concept ID:
C0751057
Disease or Syndrome
20.

Simple febrile seizures

Febrile seizures with generalized tonic-clonic semiology, duration less than 15 minutes, and without recurrence within the next 24 hours. [from HPO]

MedGen UID:
101773
Concept ID:
C0149886
Disease or Syndrome
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