Epilepsy in Tubulinopathy: Personal Series and Literature Review.
EEG
TUBA1A
TUBB2B
TUBB3
epilepsy
malformations cortical development
tubulin genes
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
02 07 2019
02 07 2019
Historique:
received:
04
06
2019
revised:
25
06
2019
accepted:
28
06
2019
entrez:
5
7
2019
pubmed:
5
7
2019
medline:
5
7
2019
Statut:
epublish
Résumé
Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy are the main clinical symptoms. In the present study 15 patients from a personal cohort and 75 from 21 published studies carrying mutations in
Identifiants
pubmed: 31269740
pii: cells8070669
doi: 10.3390/cells8070669
pmc: PMC6678821
pii:
doi:
Substances chimiques
Tubulin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
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