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Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua.

ABSTRACT: TBC1D24 mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous TBC1D24 mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic-clonic seizure without intellectual disability or developmental delay. EPC, which involved focal limbs, came with waking and went with sleep. The genetic analysis reported a novel mutation in the TBC1D24 gene, c.229_240del (p.82_84del). The homozygous mutation was inherited from her healthy parents who were heterozygous. Morphometric analysis program (MAP), an MRI post-processing technique, was used and detected a subtle abnormality of the brain. A comprehensive analysis based on semiology, electroencephalogram, somatosensory-evoked potential, and MAP suggested a potential focal structural abnormality. This case indicates a possible correlation between the TBC1D24 mutation and brain development abnormality.

SUBMITTER: Zhou Q

PROVIDER: S-EPMC5787533 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua.

Zhou Qilin Q Lin Yicong Y Ye Jing J Li Liping L Hu Ningning N Wang Di D Wang Yuping Y

Frontiers in neurology 20180124

TBC1D24 mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous TBC1D24 mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic-clonic seizure without intellectual disability or developmental delay. EPC, which involved focal limbs, came with waking and went with sleep. The genetic analysis reported a novel mutation in the TBC1D24 gen ...[more]

PMID: 29416524

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