G2Cdb::Human Disease report

Disease id
D00000197
Name
Epilepsy (autosomal dominant lateral temporal)
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001881 L1CAM
L1 cell adhesion molecule
Y (17296837) Single nucleotide polymorphism (SNP) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (17296837) Single nucleotide polymorphism (SNP) Y

References

  • Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

    Chabrol E, Popescu C, Gourfinkel-An I, Trouillard O, Depienne C, Senechal K, Baulac M, LeGuern E and Baulac S

    INSERM UMR 679, Neurologie and Thérapeutique Expérimentale, Université Pierre et Marie Curie-Paris 6, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

    Background: Mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene have been implicated in autosomal dominant lateral temporal epilepsy.

    Objective: To describe the clinical and genetic findings in 2 families with autosomal dominant lateral temporal epilepsy and the functional consequences of 2 novel mutations in LGI1.

    Design: Clinical, genetic, and functional investigations.

    Setting: University hospital. Patients Two French families with autosomal dominant lateral temporal epilepsy. Main Outcome Measure Mutation analysis.

    Results: Two novel disease-linked mutations, p.Leu232Pro and c.431 + 1G>A, were identified in LGI1. We demonstrated that the c.431 + 1G>A mutation causes the deletion of exons 3 and 4 of the LGI1 transcript and showed that the p.Leu232Pro mutation dramatically decreases secretion of the mutant protein by mammalian cells.

    Conclusion: Our data indicate that LGI1 is a secreted protein and suggest that LGI1-related epilepsy results from a loss of function.

    Archives of neurology 2007;64;2;217-22

Literature (1)

Pubmed - other

  • Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

    Chabrol E, Popescu C, Gourfinkel-An I, Trouillard O, Depienne C, Senechal K, Baulac M, LeGuern E and Baulac S

    INSERM UMR 679, Neurologie and Thérapeutique Expérimentale, Université Pierre et Marie Curie-Paris 6, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

    Background: Mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene have been implicated in autosomal dominant lateral temporal epilepsy.

    Objective: To describe the clinical and genetic findings in 2 families with autosomal dominant lateral temporal epilepsy and the functional consequences of 2 novel mutations in LGI1.

    Design: Clinical, genetic, and functional investigations.

    Setting: University hospital. Patients Two French families with autosomal dominant lateral temporal epilepsy. Main Outcome Measure Mutation analysis.

    Results: Two novel disease-linked mutations, p.Leu232Pro and c.431 + 1G>A, were identified in LGI1. We demonstrated that the c.431 + 1G>A mutation causes the deletion of exons 3 and 4 of the LGI1 transcript and showed that the p.Leu232Pro mutation dramatically decreases secretion of the mutant protein by mammalian cells.

    Conclusion: Our data indicate that LGI1 is a secreted protein and suggest that LGI1-related epilepsy results from a loss of function.

    Archives of neurology 2007;64;2;217-22

© 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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