TBC1D24 and Its Related Epileptic Encephalopathy

Tiziana Timpanaro; Flavia La Mendola; Sebastiano Billone; Alessandra Di Nora; Ausilia Collotta; Alessandra Sauna; Stefania Salafia; Raffaele Falsaperla

doi:10.1055/s-0041-1728645

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2024; 22(01): 021-028
DOI: 10.1055/s-0041-1728645

Review Article

TBC1D24 and Its Related Epileptic Encephalopathy

Tiziana Timpanaro‡^*

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Flavia La Mendola‡^*

⁴Unit of Pediatrics, Caltanissetta Hospital, Caltanissetta, Italy

,

Sebastiano Billone

²Pediatrics Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Alessandra Di Nora

²Pediatrics Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Ausilia Collotta

²Pediatrics Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Alessandra Sauna

²Pediatrics Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Stefania Salafia

³Unit of Pediatrics, Lentini Hospital, Lentini, Italy

,

Raffaele Falsaperla

⁵Unit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico Rodolico-San Marco,” Catania, Italy

⁶Unit of Neonatal Intensive Care and Neonatology, University Hospital “Policlinico Rodolico-San Marco,” Catania, Italy

› Author Affiliations

Abstract

TBC1D24, mapped to 16p13.3, encodes a protein containing a Tre2/Bub2/Cdc16 (TBC) domain, belonging to the super-family of Rab GTPase activating proteins (Rab-GAP). These proteins regulate various functions, including the regulation of the traffic of the vesicular membrane. Several TBC1D24 mutations have been related to autosomal recessive neurological disorders, including severe developmental encephalopathies with malignant early childhood epilepsy, benign epilepsy, epileptic encephalopathy, and a complex neurological syndrome characterized by deafness, onychodystrophy, bone and neurological degeneration. Mutations of TBC1D24 have also been reported in patients with nonsyndromic deafness with dominant or recessive inheritance. Mechanisms underlying TBC1D24-associated disorders and the functions of TBC1D24 products in the generation of such complex spectrum of diseases remain partly unclear and future studies are needed to clarify this aspect, in order to improve the management of seizures and for the prevention of complication (including death) of newly diagnosed patients affected by TBC1D24-related disorders.

Keywords

TBC1D24 - epilepsy - DOORS - deafness - myoclonic epilepsy - epileptic encephalopathy

Full Text

References

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