LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures

Carboxypeptidase A6 gene (CPA6) mutation

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

✍ Annick Salzmann; Michel Guipponi; Peter J. Lyons; Lloyd D. Fricker; Matthew Sapi 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 632 KB

Febrile seizures (FS) and temporal lobe epilepsy (TLE) were found in four of the seven siblings born to healthy Moroccan consanguineous parents. We hypothesized autosomal recessive (AR) inheritance. Combined linkage analysis and autozygosity mapping of a genome-wide single nucleotide polymorphism ge