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Items: 13

1.

Pyridoxine-dependent epilepsy

Pyridoxine-dependent epilepsy is characterized by intractable seizures that are not controlled with antiepileptic drugs but that respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). Multiple types of clinical seizures have been reported in individuals with pyridoxine-dependent epilepsy. Dramatic presentations consisting of prolonged seizures and recurrent episodes of status epilepticus are typical; recurrent self-limited events including partial seizures, generalized seizures, atonic seizures, myoclonic events, and infantile spasms also occur. Affected individuals may have electrographic seizures without clinical correlates. Infants with the classic neonatal presentation begin to experience seizures soon after birth. Atypical features include: late-onset seizures (age =3 years); seizures that initially respond to antiepileptic drugs and then become intractable; seizures during early life that do not respond to pyridoxine but that are then controlled with pyridoxine several months later; and prolonged seizure-free intervals (=5 1/2 months) that occur after pyridoxine discontinuation. Intellectual disability is common. [from GeneReviews]

MedGen UID:
340341
Concept ID:
C1849508
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.

Folinic acid-responsive seizures

Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. [from ORDO]

MedGen UID:
798336
Concept ID:
CN205780
Disease or Syndrome
5.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
6.

Epileptic encephalopathy

MedGen UID:
500863
Concept ID:
CN176791
Finding
7.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
8.

Unspecified encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [from HPO]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
9.

Generalized tonic-clonic seizures

Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena. [from HPO]

MedGen UID:
141670
Concept ID:
C0494475
Disease or Syndrome; Finding
10.

Generalized seizures

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

MedGen UID:
115963
Concept ID:
C0234533
Disease or Syndrome
11.

Auras

Subjective ictal phenomena that, in a given patient, may precede observable seizures; if alone, constitute a if alone, constitute a simple partial seizure. [from HPO]

MedGen UID:
65921
Concept ID:
C0236018
Finding
12.

Disorder of the central nervous system

A structural abnormality of the central nervous system. [from HPO]

MedGen UID:
3306
Concept ID:
C0007682
Disease or Syndrome
13.

Folic Acid Metabolism Disorder

MedGen UID:
850974
Concept ID:
CN231747
Disease or Syndrome
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