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 CASE REPORT
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.
Italia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_2_19

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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.






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