G2Cdb::Human Disease report

Disease id
D00000201
Name
Epilepsy (partial with auditory features)
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001881 L1CAM
L1 cell adhesion molecule
Y (15654555) No mutation found (N) N

References

  • LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.

    Flex E, Pizzuti A, Di Bonaventura C, Douzgou S, Egeo G, Fattouch J, Manfredi M, Dallapiccola B and Giallonardo AT

    Dipartimento di Medicina Sperimentale e Patologia, Universita' di Roma La Sapienza, Rome, Italy.

    Partial epilepsy with auditory features occasionally segregates in families as an autosomal dominant trait. In some families mutations in the leucine-rich glioma inactivated (LGI1) gene have been identified. Sporadic cases might harbour either denovo or low-penetrant LGI1 mutations, which will substantially alter the family risk for epilepsy. We selected sixteen sporadic patients with cryptogenic temporal lobe epilepsy and partial seizures with auditory features. We compared clinical features of these patients with those of published autosomal dominant family cases. We screened these patients for LGI1 mutations. Comparing the sporadic patients with the published familial cases no difference in either the primary auditory features or in the other associated epileptic manifestations was identified. Sequence analysis of the whole LGI1 gene coding regions in sporadic patients did not reveal changes in the LGI1 gene. The genetic analysis demonstrates that LGI1 is not a major gene for sporadic cases of partial epilepsy with auditory features at least in the Italian population. Screening of sporadic patients for LGI1 mutations appears not useful in genetic counselling of these patients.

    Journal of neurology 2005;252;1;62-6

Literature (1)

Pubmed - human_disease

  • LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.

    Flex E, Pizzuti A, Di Bonaventura C, Douzgou S, Egeo G, Fattouch J, Manfredi M, Dallapiccola B and Giallonardo AT

    Dipartimento di Medicina Sperimentale e Patologia, Universita' di Roma La Sapienza, Rome, Italy.

    Partial epilepsy with auditory features occasionally segregates in families as an autosomal dominant trait. In some families mutations in the leucine-rich glioma inactivated (LGI1) gene have been identified. Sporadic cases might harbour either denovo or low-penetrant LGI1 mutations, which will substantially alter the family risk for epilepsy. We selected sixteen sporadic patients with cryptogenic temporal lobe epilepsy and partial seizures with auditory features. We compared clinical features of these patients with those of published autosomal dominant family cases. We screened these patients for LGI1 mutations. Comparing the sporadic patients with the published familial cases no difference in either the primary auditory features or in the other associated epileptic manifestations was identified. Sequence analysis of the whole LGI1 gene coding regions in sporadic patients did not reveal changes in the LGI1 gene. The genetic analysis demonstrates that LGI1 is not a major gene for sporadic cases of partial epilepsy with auditory features at least in the Italian population. Screening of sporadic patients for LGI1 mutations appears not useful in genetic counselling of these patients.

    Journal of neurology 2005;252;1;62-6

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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