Epileptic phenotypes associated with mitochondrial disorders. - Wikidata - awgldk - TriplyDB

Epileptic phenotypes associated with mitochondrial disorders.

Epileptic phenotypes associated with mitochondrial disorders.

http://www.wikidata.org/entity/Q48868686

about

Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics MELAS with A3243G mutation presenting with occipital status epilepticus.Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.Neuropathology in Drosophila mutants with increased seizure susceptibility.Epilepsy in adults with mitochondrial disease: A cohort study.Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.Metabolic causes of epileptic encephalopathy Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.A review of current applications of mass spectrometry for neuroproteomics in epilepsy.The genetics and pathology of mitochondrial disease.Progressive myoclonic epilepsies: definitive and still undetermined causes.Mitochondrial diseases in childhood: a clinical approach to investigation and management.The neurologic manifestations of mitochondrial disease.Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.The potential role of mitochondrial dysfunction in seizure-associated cell death in the hippocampus and epileptogenesis.Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders.Mitochondrial disease and epilepsy.Mitochondrial diseases and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.The role of reactive species in epileptogenesis and influence of antiepileptic drug therapy on oxidative stress Seizure semiology and EEG findings in mitochondrial diseases.When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?Review: Central nervous system involvement in mitochondrial disease Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.Leber's hereditary optic neuropathy mutations associated with infantile-onset myoclonic epilepsy.Understanding the Epilepsy in POLG Related Disease Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.Iron deficiency in children with mitochondrial disease.Epileptic phenotypes in children with respiratory chain disorders.The role of mitochondria in epilepsy: implications for neurodegenerative diseases.Spasms in children with definite and probable mitochondrial disease.Valproic acid blood genomic expression patterns in children with epilepsy - a pilot study.Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy.Bayesian network and mechanistic hierarchical structure modeling of increased likelihood of developing intractable childhood epilepsy from the combined effect of mtDNA variants, oxidative damage, and copy number.The role of mitochondria in status epilepticus.Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.Acute creatine administration improves mitochondrial membrane potential and protects against pentylenetetrazol-induced seizures.Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation.

P2860

Q28576519-7C54EEC6-C735-4FBA-A62B-3D8D07ED4F78 Q33437374-10203002-650D-4EE8-BE94-A274ACC4F92A Q36410201-D941377D-2C24-497B-B672-0D0BCCDC802B Q36470506-88DC5F51-0882-4955-AEDC-09C81A57A8A8 Q36533148-B422AED0-3FAA-4EDD-9FDF-793ECE78A076 Q36809656-E3F4F2B0-BA4E-42C5-820E-8253B8FA7BC8 Q36908032-C2E9D12A-E7A8-4E39-A0A5-40D39B1ACB05 Q36980426-9D622A90-DD51-4062-A038-014FCDBE1F36 Q37132419-F53666B0-CDB9-43BC-AE2F-B351E5330AB9 Q37550219-6D9D6085-4733-44AD-ADB5-F555E202C17C Q37560946-4A08E4E3-7E26-402A-8EFE-C6ED2E8C605F Q37567498-8206C8FB-1249-468F-B8FD-25ABAB7DE38F Q37693983-ABAC8D18-3221-47EC-AE50-17AFA0AA4987 Q37785511-74764826-9B2C-449A-9C92-41593F3999AD Q37808651-FFF08227-23D6-4F34-83C3-34BE6659F20D Q37820454-F6B67704-C87A-427D-A532-242A418E6E2F Q37965552-D9592C4F-40B5-4641-8257-BA4A07B1A553 Q37979255-DCC4E0C2-F2E3-4F09-A8E1-FD2A1BC4A319 Q38040447-E3CFBD38-4D48-4722-ADC7-31396AFAB31C Q38088309-B2C35AED-6FE3-492A-8DC2-C86E68DBC019 Q38111374-AC82CF62-D7E3-4879-982B-3F2664AA804F Q38194167-579BF149-2B33-4D84-9233-6FF0154965F3 Q38261972-90074AD5-7043-4163-A001-2164FEF8E906 Q38861730-20C3FB6A-9134-43EF-B6CB-A0FE94CFD692 Q39536524-FFBC6036-ED22-4E87-AE61-84DCEBB9A666 Q40326690-90381204-3F36-4BB5-B784-E5C55F5FC685 Q41661308-D24E1B6F-A523-484F-8010-61C5B8C7A6A8 Q41937225-2D67B810-6B5B-48EA-AA49-C0D06C0F02F8 Q43083225-550F5424-5222-452B-89DA-F2CF5CFEA6F8 Q43144972-DD32260F-3B59-4443-94F5-DBC995994154 Q43215586-E8EFB622-D4A4-4F30-9F23-DEE6A4B064C7 Q44746052-1E06B79E-9B35-4770-B1AE-206B057BEB7D Q44756487-AFA153BE-0C15-45F8-90F6-14E64645433C Q44849480-42724825-61B2-45C3-94EA-E85F85EE7C5D Q45360261-E0FF87D7-4D14-4CCC-943C-DD47819B6103 Q45398813-946C9BF9-2E1A-4A3F-B8B4-EFB7AD515B34 Q46710917-4ABB958B-04EC-4464-948A-681544AF94CC Q48132493-24F6EAA4-DD63-49BA-84E9-25C7D544AECE Q48336710-E76DE431-AE98-4B2B-80FF-4E5B7AC60B52 Q48652346-1531D4CC-492F-4412-BDD3-1E45AACCE7C8

P2860

Epileptic phenotypes associated with mitochondrial disorders.

http://www.wikidata.org/entity/Q48868686

description

2001 nî lūn-bûn

@nan

2001年の論文

@ja

2001年学术文章

@wuu

2001年学术文章

@zh-cn

2001年学术文章

@zh-hans

2001年学术文章

@zh-my

2001年学术文章

@zh-sg

2001年學術文章

@yue

2001年學術文章

@zh

2001年學術文章

@zh-hant

name

Epileptic phenotypes associated with mitochondrial disorders.

@en

Epileptic phenotypes associated with mitochondrial disorders.

@nl

type

label

Epileptic phenotypes associated with mitochondrial disorders.

@en

Epileptic phenotypes associated with mitochondrial disorders.

@nl

prefLabel

Epileptic phenotypes associated with mitochondrial disorders.

@en

Epileptic phenotypes associated with mitochondrial disorders.

@nl

P1433

Q48868686-55B20257-BD81-4C7E-B88E-8ED8F6B64A74

P1476

Q48868686-D1A3D50E-C74A-4148-83B3-B5785488D566

P2093

Q48868686-4223C698-CDBB-47D7-8A12-13567A3C80AB

Q48868686-47F2DC99-64D5-4381-82F7-3B391233A997

Q48868686-48C750CF-94B6-4BE3-8113-59D185EEB5BE

Q48868686-5A16DAC7-3F42-48DD-9AD6-2E303DDC5E36

Q48868686-77E7749D-4DB7-465A-B67E-0FDB265041BD

Q48868686-77E8A74B-07EB-4557-B187-5DBA8ECFDEA5

Q48868686-7E7F74DD-BA92-469C-B696-82C753157325

Q48868686-83E3BD40-4DF0-4EBB-9E3F-E3F1D1BBF808

Q48868686-8BF9168D-E7F2-4C53-84CA-42F04291DDF9

Q48868686-8F4BA413-469E-49B4-9A4D-0120C5C05AB9

P304

Q48868686-B3C7F4C1-4E83-4663-9C11-0888E9A26E6A

P31

Q48868686-0E6E1770-7EEA-4715-9ECA-3F185EADE0A8

P356

Q48868686-13502E16-0493-409F-93E8-35F412A6D89A

P407

Q48868686-04DFCEA3-3EF9-4458-9CCB-3EBD27C99BE6

P433

Q48868686-0C8BF6ED-0EBE-464C-B85D-CB19C764BD8B

P478

Q48868686-FC554492-2E78-4252-B15F-FB8DDB7B1A73

P577

Q48868686-08D3DB0F-6864-4068-9120-9D6B8D6DF27F

P698

Q48868686-F397B932-4E12-4D52-A416-1FDF4CD13604

P356

P1433

P1476

Epileptic phenotypes associated with mitochondrial disorders.

@en

P2093

Antozzi C

http://www.w3.org/2001/XMLSchema#string

Avanzini G

http://www.w3.org/2001/XMLSchema#string

Canafoglia L

http://www.w3.org/2001/XMLSchema#string

Carrara F

http://www.w3.org/2001/XMLSchema#string

Farina L

http://www.w3.org/2001/XMLSchema#string

Franceschetti S

http://www.w3.org/2001/XMLSchema#string

Granata T

http://www.w3.org/2001/XMLSchema#string

Lamantea E

http://www.w3.org/2001/XMLSchema#string

Savoiardo M

http://www.w3.org/2001/XMLSchema#string

Uziel G

http://www.w3.org/2001/XMLSchema#string

P304

1340-1346

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1212/WNL.56.10.1340

http://www.w3.org/2001/XMLSchema#string

P407

P433

10

http://www.w3.org/2001/XMLSchema#string

P478

56

http://www.w3.org/2001/XMLSchema#string

P577

2001-05-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

11376185

http://www.w3.org/2001/XMLSchema#string