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  1. Article

    Open Access

    Dysregulation of FOXG1 by ring chromosome 14

    In this study we performed molecular characterization of a patient with an extra ring chromosome derived from chromosome 14, with severe intellectual disability, epilepsy, cerebral paresis, tetraplegia, osteop...

    Daniela Alosi, Laura Line Klitten, Mads Bak, Helle Hjalgrim… in Molecular Cytogenetics (2015)

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  2. No Access

    Article

    Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

    Holger Lerche, Camila Esguerra and colleagues report the identification of inactivating mutations in STX1B in individuals with various seizure-related disorders, including febrile seizures and epilepsy. Functiona...

    Julian Schubert, Aleksandra Siekierska, Mélanie Langlois, Patrick May… in Nature Genetics (2014)

  3. No Access

    Article

    Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

    Sarah von Spiczak, Holger Lerche and colleagues identify mutations in GRIN2A that cause idiopathic focal epilepsy with rolandic spikes.

    Johannes R Lemke, Dennis Lal, Eva M Reinthaler, Isabelle Steiner… in Nature Genetics (2013)

  4. No Access

    Article

    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    Thomas Sander and colleagues identify 15q13.3 microdeletions in 1% of individuals with idiopathic generalized epilepsy (IGE). The majority of these individuals do not show intellectual disability, schizophreni...

    Ingo Helbig, Heather C Mefford, Andrew J Sharp, Michel Guipponi… in Nature Genetics (2009)

  5. Article

    Open Access

    Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

    Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniqu...

    Marie Sogaard, Zeynep Tümer, Helle Hjalgrim, Johanne Hahnemann… in BMC Medical Genetics (2005)

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