TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16

Acta Neurol Belg. 2020 Apr;120(2):381-383. doi: 10.1007/s13760-017-0818-3. Epub 2017 Jul 19.

Authors

Michele Salemi¹, Francesco Cali'², Mariaconcetta Giambirtone², Maurizio Elia², Corrado Romano²

Affiliations

¹ IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging, Troina, Italy. micezia@tiscali.it.
² IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.

PMID: 28726039
DOI: 10.1007/s13760-017-0818-3

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
GTPase-Activating Proteins / genetics*
Humans
Male
Mutation
Pedigree
RNA, Messenger
Spasms, Infantile / genetics*
Transcriptome

Substances

GTPase-Activating Proteins
RNA, Messenger
TBC1D24 protein, human

Supplementary concepts

Infantile Epileptic-Dyskinetic Encephalopathy