Epilepsy, Pyridoxine-Dependent malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases
Aliases & Descriptions for Epilepsy, Pyridoxine-Dependent:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,normal life expectancy
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases
NIH Rare Diseases:46 Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. those affected typically experience prolonged seizures lasting several minutes (status epilepticus). these seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin b6 found in food). mutations in the aldh7a1 gene cause pyridoxine-dependent epilepsy. this gene is inherited in an autosomal recessive fashion. last updated: 7/23/2013
MalaCards based summary: Epilepsy, Pyridoxine-Dependent, also known as pyridoxine-dependent epilepsy, is related to epilepsy and microcephaly, and has symptoms including seizures, abnormality of metabolism/homeostasis and neurological speech impairment. An important gene associated with Epilepsy, Pyridoxine-Dependent is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1).
Genetics Home Reference:24 Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.
OMIM:50 Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first... (266100) more...
UniProtKB/Swiss-Prot:68 Pyridoxine-dependent epilepsy: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.
GeneReviews summary for NBK1486
Diseases related to Epilepsy, Pyridoxine-Dependent via text searches within MalaCards or GeneCards Suite gene sharing:(show all 16)
Graphical network of diseases related to Epilepsy, Pyridoxine-Dependent:
Symptoms by clinical synopsis from OMIM:266100
Clinical features from OMIM:266100
Symptoms:52 (show all 13)
HPO human phenotypes related to Epilepsy, Pyridoxine-Dependent:(show all 21)
UMLS symptoms related to Epilepsy, Pyridoxine-Dependent:seizures
Drugs for Epilepsy, Pyridoxine-Dependent (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Epilepsy, Pyridoxine-Dependent
UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Pyridoxine-Dependent:68
Clinvar genetic disease variations for Epilepsy, Pyridoxine-Dependent:5 (show all 13)
Search GEO for disease gene expression data for Epilepsy, Pyridoxine-Dependent.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet