DOI: 10.1055/s-00000041

Neuropediatrics

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Klitten LL, Møller RS, Nikanorova M, Silahtaroglu A, Hjalgrim H, Tommerup N.
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).

Epilepsia 2011;
52 (12) e190-e193

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