Pyridoxine-dependent Epilepsy malady

NIH Rare Diseases: 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.³⁰

MalaCards: Pyridoxine-dependent Epilepsy, also known as vitamin b6-dependent seizures, is related to seizures and huntington's disease. An important gene associated with Pyridoxine-dependent Epilepsy is ALDH7A1 (aldehyde dehydrogenase 7 family, member A1), and among its related pathways are Metabolic pathways and beta-Alanine metabolism. The drugs primidone and anti-epileptic agent [epc] and the compounds nadph and beta-alanine have been mentioned in the context of this disorder. Related mouse phenotype normal.

Genetics Home Reference: 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.¹⁷

Wikipedia: Pyridoxine-dependent epilepsy (PDE, EPD) or pyridoxine-dependent seizure (PDS) is an extremely rare...⁴⁴ more...

OMIM: 266100

GeneReviews summary for pds

pyridoxine-dependent epilepsy 15 30 16 17 vitamin b6-dependent seizures 15 30 16 17 pyridoxine dependency 15 30 16 17 epilepsy, pyridoxine-dependent 17 33 43 pyridoxine-dependent seizures 15 16

pyridoxine dependency with seizures 30 aasa dehydrogenase deficiency 17 epilepsy 43 epd 17 pde 17

Diseases related to pyridoxine-dependent epilepsy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 641)

id	Related Disease	Score	Top Affiliating Genes
1	seizures	33.2	GAD1, ALDH7A1
2	huntington's disease	29.0	ALDH7A1, GAD1
3	status epilepticus	28.9	ALDH7A1, GAD1
4	dermatitis	28.3	ALDH7A1, GAD1
5	temporal lobe epilepsy	11.2
6	generalized epilepsy	10.2
7	idiopathic generalized epilepsy	9.7
8	progressive myoclonus epilepsy	9.7
9	malaria	9.7
10	myoclonus epilepsy	9.7
11	myoclonus	9.7
12	juvenile myoclonic epilepsy	9.6
13	retinitis	9.6
14	absence epilepsy	9.3
15	neuronitis	9.2
16	febrile seizures	9.2
17	epilepsy syndrome	9.0
18	osteosarcoma	9.0
19	generalized epilepsy with febrile seizures plus	8.9
20	frontal lobe epilepsy	8.9
21	childhood absence epilepsy	8.8
22	autosomal dominant nocturnal frontal lobe epilepsy	8.7
23	intractable epilepsy	8.6
24	focal epilepsy	8.4
25	hypertension	8.3
26	lafora disease	8.3
27	tuberous sclerosis	8.3
28	retinitis pigmentosa	8.2
29	autosomal dominant partial epilepsy with auditory features	8.2
30	unverricht-lundborg syndrome	8.2
31	asthma	8.1
32	hyperpipecolatemia	8.1
33	dravet syndrome	8.0
34	fibrosis	8.0
35	leukemia	8.0
36	ataxia	8.0
37	retinal degeneration	7.9
38	merrf syndrome	7.8
39	prickle1-related progressive myoclonus epilepsy with ataxia	7.7
40	pulmonary hypertension	7.7
41	complex partial epilepsy	7.5
42	juvenile absence epilepsy	7.5
43	reflex epilepsy	7.5
44	carcinoma	7.4
45	lymphocytic leukemia	7.4
46	chronic lymphocytic leukemia	7.3
47	cystic fibrosis	7.3
48	benign epilepsy with centrotemporal spikes	7.3
49	cerebritis	7.3
50	mental retardation epilepsy	7.3

Clinical features from OMIM: 266100

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 anti-epileptic agent [epc], primidone

Genetic tests related to pyridoxine-dependent epilepsy:

id	Genetic test	Affiliating Genes
1	Pyridoxine-dependent Epilepsy clinical/research	ALDH7A1

MGI Mouse Phenotypes related to pyridoxine-dependent epilepsy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal phenotype	MP:0002873	9.1	ALDH7A1, GAD1

Articles related to pyridoxine-dependent epilepsy:

id	Title	Authors	Year	Affiliating Genes
1	Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. (19294602)	Kluger G.... Plecko B.	2008	ALDH7A1
2	Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. (17068770)	Plecko B.... Erwa W.	2007	ALDH7A1
3	A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. (10978228)	Cormier-Daire V.... Dulac O.	2000	GAD1, ALDH7A1
4	Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. (9621518)	Kure S.... Narisawa K.	1998	GAD1

Genes related to pyridoxine-dependent epilepsy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ALDH7A1	aldehyde dehydrogenase 7 family, member A1	11.1	Publications, Orthologs, Summaries
2	GAD1	glutamate decarboxylase 1 (brain, 67kDa)	11.0	Publications

Pathways related to pyridoxine-dependent epilepsy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Metabolic pathways20	9.1	ALDH7A1, GAD1
2	beta-Alanine metabolism20	8.8	ALDH7A1, GAD1

Compounds related to pyridoxine-dependent epilepsy according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	nadph32 18	10.1	ALDH7A1, GAD1
2	beta-alanine32 42 9 18 9	13.0	ALDH7A1, GAD1
3	vitamin b632	8.8	ALDH7A1, GAD1