4-Aminopyridine is a promising treatment option for patients with gain-of-function

4-Aminopyridine / therapeutic use Brain Diseases Epilepsy Gain of Function Mutation Humans Kv1.2 Potassium Channel / genetics Mutation

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
Sep 2021
Historique:
entrez: 13 9 2021
pubmed: 14 9 2021
medline: 3 11 2021
Statut: ppublish

Résumé

Developmental and epileptic encephalopathies are devastating disorders characterized by epilepsy, intellectual disability, and other neuropsychiatric symptoms, for which available treatments are largely ineffective. Following a precision medicine approach, we show for

Identifiants

DOI: 10.1126/scitranslmed.aaz4957 PMID: 34516822
pubmed: 34516822
doi: 10.1126/scitranslmed.aaz4957
doi:

Substances chimiques

KCNA2 protein, human 0
Kv1.2 Potassium Channel 0
4-Aminopyridine BH3B64OKL9

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

eaaz4957

Subventions

Organisme : Department of Health
Pays : United Kingdom

Auteurs

Ulrike B S Hedrich (UBS)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0003-3801-1306

Stephan Lauxmann (S)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0002-9194-1716

Markus Wolff (M)

Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72076 Tuebingen, Germany.
Department of Pediatric Neurology, Vivantes-Klinikum Neukölln, 12351 Berlin, Germany.
ORCID: 0000-0001-5640-0888

Matthis Synofzik (M)

Department of Neurology and Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
ORCID: 0000-0002-2280-7273

Thomas Bast (T)

Epilepsy Center Kork, 77694 Kehl-Kork, Germany.
Medical Faculty of the University of Freiburg, 79110 Freiburg, Germany.
ORCID: 0000-0001-8995-9792

Adrian Binelli (A)

Department of Pediatric Neurology, Elizalde Children's Hospital, C1270 Buenos Aires, Argentina.
ORCID: 0000-0001-5853-0467

José M Serratosa (JM)

Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS- Fundacio'n Jime'nez Dı'az, UAM, 28040 Madrid, Spain.
Centro de Investigacio'n Biome'dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
ORCID: 0000-0003-2239-8948

Pedro Martínez-Ulloa (P)

Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS- Fundacio'n Jime'nez Dı'az, UAM, 28040 Madrid, Spain.

Nicholas M Allen (NM)

Department of Paediatrics, Clinical Sciences Institute, National University of Ireland Galway, Galway H91 TK33, Ireland.

Mary D King (MD)

Department of Neurology and Neurophysiology, Children's Health Ireland at Temple Street, Dublin DO1 YC67, Ireland.
School of Medicine and Medical Science, University College Dublin, Dublin DO4 V1W8, Ireland.

Kathleen M Gorman (KM)

Department of Neurology and Neurophysiology, Children's Health Ireland at Temple Street, Dublin DO1 YC67, Ireland.
School of Medicine and Medical Science, University College Dublin, Dublin DO4 V1W8, Ireland.
ORCID: 0000-0002-5488-1507

Bruria Ben Zeev (BB)

Sackler School of Medicine Tel Aviv University, Tel Aviv 6997801, Israel.
Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, 5265601 Ramat Gan, Israel.
ORCID: 0000-0001-6347-2089

Michal Tzadok (M)

Sackler School of Medicine Tel Aviv University, Tel Aviv 6997801, Israel.
Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, 5265601 Ramat Gan, Israel.

Lily Wong-Kisiel (L)

Divisions of Child Neurology & Division of Epilepsy, Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.
ORCID: 0000-0002-5306-0862

Dragan Marjanovic (D)

Danish Epilepsy Center, Filadelfia, 4293 Dianalund, Denmark.
ORCID: 0000-0001-9967-7828

Guido Rubboli (G)

Danish Epilepsy Center, Filadelfia, 4293 Dianalund, Denmark.
University of Copenhagen, 1165 Copenhagen, Denmark.
ORCID: 0000-0002-5309-2514

Sanjay M Sisodiya (SM)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Chalfont Centre for Epilepsy, Bucks SL9 0RJ, UK.

Florian Lutz (F)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0002-3778-3286

Harshad Pannikkaveettil Ashraf (HP)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0001-6842-916X

Kirsten Torge (K)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.

Pu Yan (P)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.

Christian Bosselmann (C)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0002-1596-5599

Niklas Schwarz (N)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0002-4064-3073

Monika Fudali (M)

Department of Neurosurgery, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0002-9922-9942

Holger Lerche (H)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0002-1783-8710

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Classifications MeSH

questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Pyridines › Aminopyridines › 4-Amino-pyridine › 4-Aminopyridine is a promising treatment...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › 4-Aminopyridine is a promising treatment...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › 4-Aminopyridine is a promising treatment...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation gain de fonction › 4-Aminopyridine is a promising treatment...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › 4-Aminopyridine is a promising treatment...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux potassiques › Canaux potassiques voltage-dépendants › Canaux potassiques de la superfamille Shaker › Canal potassique Kv1.2 › 4-Aminopyridine is a promising treatment...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › 4-Aminopyridine is a promising treatment...