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We present a 34\u2010year\u2010old Chinese male who complained of recurrent seizures within one year. His occipital frontal circumference was 62.8\u2009cm. Whole\u2010exon sequencing revealed that he carried a heterozygous missense mutation of NM_000314.4:c.4375C\u2009&gt;\u2009T (p.Met35Val) in PTEN gene. 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