Progressive myoclonic epilepsies: definitive and still undetermined causes. - Wikidata - wikimedia - TriplyDB

Progressive myoclonic epilepsies: definitive and still undetermined causes.

Progressive myoclonic epilepsies: definitive and still undetermined causes.

http://www.wikidata.org/entity/Q37567498

about

Profile of brivaracetam and its potential in the treatment of epilepsy A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations Genetic forms of epilepsies and other paroxysmal disorders Neurophysiological and BOLD signal uncoupling of giant somatosensory evoked potentials in progressive myoclonic epilepsy: a case-series study.Brivaracetam: review of its pharmacology and potential use as adjunctive therapy in patients with partial onset seizures.Update on pharmacological treatment of Progressive Myoclonus Epilepsies.Methodological issues associated with clinical trials in epilepsy.Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities.GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.Mild Lafora disease: clinical, neurophysiologic, and genetic findings.SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.Unusual Course of Lafora Disease.

P2860

Q26776317-F68B2561-9751-4ECE-AB20-9C05A30732B1 Q34448160-E3EB4B5D-9736-4228-8215-71BA0CA9103F Q35904791-ED1DF119-EE54-4DC1-BD73-3E8C3677C869 Q36805699-9D86E752-D6B6-4BF1-8606-B98CF90CE080 Q37704689-DBAA5E1C-91FB-46C5-B4C5-146DBF230409 Q38626838-F37CFEF5-5445-4FEE-A9FE-7A2790805BD8 Q38629165-F8CDFE00-3094-4098-830C-8D08F74B7297 Q38656392-99EBE574-5101-4777-B47B-8C026174D603 Q38852106-9E39BAFD-4CF9-4101-BB87-CFB3F9A4F760 Q48191809-F81B10E8-1FCF-4B1F-A08D-9FD86093DFFC Q48205045-6DEBFE40-DBA0-4F63-99D2-9F5CD16A941E Q51109948-FCE855C7-7182-4C4D-BCB9-711B68987372 Q53801857-F30A920C-9744-4D5E-8AB1-C356F7E49490 Q55086997-83D9999E-9EBC-4ED1-B3A5-22BB767B1190

P2860

Progressive myoclonic epilepsies: definitive and still undetermined causes.

http://www.wikidata.org/entity/Q37567498

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 02 January 2014

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Progressive myoclonic epilepsies: definitive and still undetermined causes.

@en

Progressive myoclonic epilepsies: definitive and still undetermined causes.

@nl

type

label

Progressive myoclonic epilepsies: definitive and still undetermined causes.

@en

Progressive myoclonic epilepsies: definitive and still undetermined causes.

@nl

prefLabel

Progressive myoclonic epilepsies: definitive and still undetermined causes.

@en

Progressive myoclonic epilepsies: definitive and still undetermined causes.

@nl

P1433

Q37567498-97019483-F73B-4374-82FB-DFD298515474

P1476

Q37567498-83151008-C5D8-45B3-BDA6-61A4E059DDDB

P2093

Q37567498-05990BD5-8BBE-48F2-8A65-0EF3DBEF2D35

Q37567498-164A5CF7-12FE-4DCA-BC67-29411228BE2F

Q37567498-2E4F9059-BB1C-48F8-8A08-88C2B35E50A7

Q37567498-58BC7B05-703D-43B3-AE07-9A649724FF92

Q37567498-5CC65D9C-C702-4AA4-A995-57BF6A218AA4

Q37567498-6E7E24D2-8682-4C72-B3E2-1B0E2A60DBD8

Q37567498-7406D80F-B7D1-49B5-B842-DD41B9A32AE1

Q37567498-851C4BBE-4CEC-49D6-AE71-8FC5BD66F6A4

Q37567498-8FD13556-3D11-461A-B5E2-0B326D29FDD1

Q37567498-CD3C8A4A-CE6A-4516-BC88-AE8E176B6BF3

P2860

Q37567498-0EFC5787-0E94-4C84-BF55-8A541CDA3A47

Q37567498-10C58541-F380-41D1-B34A-2C60912990B0

Q37567498-2B84268B-C703-47F6-B3C0-59AD540CBB70

Q37567498-3E43EF1D-AA3D-4080-8664-CA502E9948F3

Q37567498-507606CA-4561-4E72-A9FC-8573DFC9A428

Q37567498-52BB334B-CF96-4F85-B85B-CA24058D9B7C

Q37567498-56E573D7-BB46-4DCF-9256-A1E936B7FEAC

Q37567498-5A40BC71-9806-4E3A-9AA6-46B211083BB3

Q37567498-5BBA327C-1A4E-42EE-972E-36CB7C0B1E83

Q37567498-64B95A74-8852-4412-B8B6-F7CC9358440B

P304

Q37567498-D0DCA18B-2745-491F-91C0-DED9DEB9C2CE

P31

Q37567498-D51B7F2A-5CA7-4D25-92C5-CAF0C5209465

P356

Q37567498-F6A91E26-9AA5-4C6C-A5FA-31FD710CFAF9

P407

Q37567498-EE27079D-1E06-4CA6-9BFB-A35183AC4B2B

P433

Q37567498-36F8212E-ADF0-4DBA-98FB-F4A88B1350E8

P478

Q37567498-4CD896B5-CF50-479A-9DBE-546C2C6AF5B7

P50

Q37567498-02D7F0F7-BA2F-4625-B63D-4342B3903439

Q37567498-10FC3EA3-D813-4B6C-B0B5-D2B3440B755A

Q37567498-46D6BDE5-B90D-47EE-8833-DF63F9DA0A4A

Q37567498-645AC362-B884-4E13-ACDD-18BD6D5516D7

Q37567498-6E435892-71B0-40E9-AD4E-BE9CAC2DDB8D

Q37567498-CA5FAAFA-DBAA-4E68-A7FE-E939F7026A8B

Q37567498-DF2584E7-E973-4094-84F8-1CAA35241389

Q37567498-FD1628E1-B265-4683-A158-B86B2ACDF771

P577

Q37567498-70C9FA53-92FE-44B7-93E1-D0B54B24EAC4

P698

Q37567498-B4746457-E197-480D-AF23-A9462C946790

P932

Q37567498-5C415F6F-8EAD-4DDE-A396-9E86EB382B33

P356

WNL.0000000000000077

P1433

P1476

Progressive myoclonic epilepsies: definitive and still undetermined causes

@en

P2093

Amedeo Bianchi

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

Angela La Neve

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

Anna Teresa Giallonardo

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

Collaborative LICE study group on PMEs

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

Edoardo Ferlazzo

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

Ferruccio Panzica

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

Giuliano Avanzini

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

Giuseppe Capovilla

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

Giuseppe Gobbi

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

Pasquale Striano

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

P2860

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

Clinical picture of EPM1-Unverricht-Lundborg disease

Lafora's disease: towards a clinical, pathologic, and molecular synthesis.

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects.

Epilepsy in mitochondrial disorders.

Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients.

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

P304

405-411

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

P31

scholarly article

P356

10.1212/WNL.0000000000000077

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

P407

P433

5

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

P478

82

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

P50

Antonio Gambardella

Roberto Michelucci

Laura Canafoglia

Carlo A Tassinari

Adriana Magaudda

P577

2014-01-02T00:00:00Z

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

P698

24384641

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

P932

3917687

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