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Chunk #15 — RESULTS — Mutational screening of GABRG2 in the follow-up cohort.

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Novel GABRG2 mutations cause familial febrile seizures.
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Family D comprised 5 patients with FS or epilepsy. Medical reports were not available for review, but telephonic interviews with family members revealed that 3 of them (D/III-1, D/III-5, and D/III-7) had a history of FS, 2 of whom developed subsequent tonic-clonic seizures (TCS) and episodes of loss of consciousness (D/III-1 and D/III-7); 2 other family members had TCS (D/II-2) or TCS and episodes of loss of consciousness, both without a known history of FS (D/II-5). Insufficient information was available to classify the epilepsy in the family as generalized or focal. A c.174_175delinsA (p.Pro59fs*12) mutation in exon 2 of GABRG2 leading to a frameshift starting at codon Pro59 followed by a premature stop codon after 12 amino acids segregated in the 3 patients whose DNA was available.