Epilepsy, Pyridoxine-Dependent malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases
Aliases & Descriptions for Epilepsy, Pyridoxine-Dependent:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases
NIH Rare Diseases:45 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 hyperpipecolatemia and acute graft versus host disease, and has symptoms including cognitive impairment, abnormality of movement and eeg abnormality. An important gene associated with Epilepsy, Pyridoxine-Dependent is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1). Affiliated tissues include liver.
Genetics Home Reference:23 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:49 Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first... (266100) more...
UniProtKB/Swiss-Prot:67 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
Symptoms by clinical synopsis from OMIM:266100
Clinical features from OMIM:266100
Symptoms:51 (show all 12)
HPO human phenotypes related to Epilepsy, Pyridoxine-Dependent:(show all 21)
Drugs for Epilepsy, Pyridoxine-Dependent (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Epilepsy, Pyridoxine-Dependent
MalaCards organs/tissues related to Epilepsy, Pyridoxine-Dependent:33
UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Pyridoxine-Dependent:67
Clinvar genetic disease variations for Epilepsy, Pyridoxine-Dependent:5 (show all 13)
Search GEO for disease gene expression data for Epilepsy, Pyridoxine-Dependent.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet