home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 527      Small font sizeDefault font sizeIncrease font size Print this page Email this page
Year : 2019  |  Volume : 14  |  Issue : 2  |  Page : 100-102

Mild phenotype associated with SLC6A1 gene mutation: A case report with literature review

1 IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria Infantile, Bologna, Italia; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italia
2 IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria Infantile, Bologna, Italia

Correspondence Address:
Dr. Annio Posar
IRCCS Istituto delle Scienze Neurologiche di Bologna, via Altura 3, 40139 Bologna.
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_2_19

Rights and Permissions

The Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes the gamma-aminobutyric acid (GABA) transporter 1, which is one of the main GABA transporters. The clinical picture of SLC6A1 gene mutations is characterized by a broader spectrum including a mild-to-moderate intellectual disability, speech difficulties, behavioral problems, epilepsy (often with myoclonic-atonic and atypical absence seizures, characterizing a myoclonic-atonic epilepsy), and neurological signs. We describe a boy with an SLC6A1 mutation and a milder phenotype, characterized by a learning disorder without intellectual disability, nonspecific dysmorphisms, and an electroencephalogram picture closely resembling that of myoclonic-atonic epilepsy with brief absence seizures that have appeared during the follow-up, responsive to valproic acid.


Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded81    
    Comments [Add]    
    Cited by others 11    

Recommend this journal