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Genes are responsible for many cases of macrocephaly. A doctor may diagnose benign familial macrocephaly in an infant if they have a large head and a family history of larger-than-average head sizes.
Benign familial neonatal convulsions (BFNC) is a rare autosomal inherited epilepsy. We studied the KCNQ2 coding region in a large, four-generation, Italian family with BFNC. A missense mutation ...