TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

Zaid Afawi; Simone Mandelstam; Amos D. Korczyn; Sara Kivity; Simri Walid; Adel Shalata; Karen L. Oliver; Mark Corbett; Jozef Gecz; Samuel F. Berkovic; Graeme D. Jackson

doi:10.1016/j.eplepsyres.2013.02.005

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

Zaid Afawi, Simone Mandelstam, Amos D. Korczyn, Sara Kivity, Simri Walid, Adel Shalata, Karen L. Oliver, Mark Corbett, Jozef Gecz, Samuel F. Berkovic, Graeme D. Jackson

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

Abstract

We describe the clinical and radiological features of a family with a homozygous mutation in TBC1D24. The phenotype comprised onset of focal seizures at 2 months with prominent eye-blinking, facial and limb jerking with an oral sensory aura. These were controllable with medication but persisted into adult life. Associated features were mild to moderate intellectual disability and cerebellar features. MRI showed subtle cortical thickening with cerebellar atrophy and high signal confined to the ansiform lobule. The disorder is allelic with familial infantile myoclonic epilepsy, where intellect and neurologic examination are normal, highlighting the phenotypic variation with mutations of TBC1D24.

Original language	English
Pages (from-to)	240-244
Number of pages	5
Journal	Epilepsy Research
Volume	105
Issue number	1-2
DOIs	https://doi.org/10.1016/j.eplepsyres.2013.02.005
State	Published - Jul 2013
Externally published	Yes

Bibliographical note

Funding Information:
We are very grateful to the family for their participation in the study. This work was funded by grants obtained from the National Health and Medical Research Council of Australia and supported by International Science Linkages established under the Australian Government's innovation statement, Backing Australia's Ability .

Funding

We are very grateful to the family for their participation in the study. This work was funded by grants obtained from the National Health and Medical Research Council of Australia and supported by International Science Linkages established under the Australian Government's innovation statement, Backing Australia's Ability .

Funders	Funder number
Backing Australia's Ability
National Health and Medical Research Council of Australia

Keywords

Epilepsy
Focal seizures
Genetics
Intellectual disability
Malformation
TBC1D24

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10.1016/j.eplepsyres.2013.02.005

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title = "TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation",

abstract = "We describe the clinical and radiological features of a family with a homozygous mutation in TBC1D24. The phenotype comprised onset of focal seizures at 2 months with prominent eye-blinking, facial and limb jerking with an oral sensory aura. These were controllable with medication but persisted into adult life. Associated features were mild to moderate intellectual disability and cerebellar features. MRI showed subtle cortical thickening with cerebellar atrophy and high signal confined to the ansiform lobule. The disorder is allelic with familial infantile myoclonic epilepsy, where intellect and neurologic examination are normal, highlighting the phenotypic variation with mutations of TBC1D24.",

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author = "Zaid Afawi and Simone Mandelstam and Korczyn, {Amos D.} and Sara Kivity and Simri Walid and Adel Shalata and Oliver, {Karen L.} and Mark Corbett and Jozef Gecz and Berkovic, {Samuel F.} and Jackson, {Graeme D.}",

note = "Funding Information: We are very grateful to the family for their participation in the study. This work was funded by grants obtained from the National Health and Medical Research Council of Australia and supported by International Science Linkages established under the Australian Government's innovation statement, Backing Australia's Ability .",

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AU - Kivity, Sara

AU - Walid, Simri

AU - Shalata, Adel

AU - Oliver, Karen L.

AU - Corbett, Mark

AU - Gecz, Jozef

AU - Berkovic, Samuel F.

AU - Jackson, Graeme D.

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KW - Malformation

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TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

Abstract

Bibliographical note

Funding

Keywords

Access to Document

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