Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Maria Kousi, Verneri Anttila, Angela Schulz, Stella Calafato, Eveliina Jakkula, Erik Riesch, Liisa Myllykangas, Hannu Kalimo, Meral Topcu, Sarenur Gokben, Fusun Alehan, Johannes R. Lemke, Michael Alber, Aarno Palotie, Outi Kopra, Anna-Elina Lehesjoki

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalJournal of Medical Genetics
Volume49
Issue number6
Pages (from-to)391-399
Number of pages9
ISSN0022-2593
DOIs
Publication statusPublished - 2012
MoE publication typeA1 Journal article-refereed

Fields of Science

  • NEURONAL CEROID-LIPOFUSCINOSIS
  • RECESSIVE TRAITS
  • HOMOZYGOSITY
  • 3111 Biomedicine

Cite this