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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

Fig. 1

Pedigree and genetic analysis of patient families. a Pedigree of family1 exhibited convulsive seizures affected by a synonymous variant c.1617C > T(p.Ser539=) in KCNQ2. b Pedigree of family2 exhibited febrile or afebrile seizures affected by a deep intronic variant (c.4002 + 2461T > C) in SCN1A. Both variants were verified by Sanger sequencing. Proband is indicated by an arrow; Open symbol: unaffected individual; filled symbol: affected individuals; square: male; circle: female; ?: unknown phenotypes; An individual with a heterozygous mutation is indicated by ± , and an individual without a mutation is indicated by -/-

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BMC Medical Genomics

ISSN: 1755-8794

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