Johanna A. Jahn
Kiel, SH 24105, Germany
Last Updated: 09/26/2026
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Found 12 publications
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
Journal: American journal of human genetics
Published: October 12, 2017
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Journal: Molecular genetics & genomic medicine
Published: November 25, 2015
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 26, 2015
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Journal: Nucleic acids research
Published: November 13, 2013
Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies.
Journal: Journal of child neurology
Published: October 12, 2013
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Journal: American journal of human genetics
Published: May 08, 2013
Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.
Journal: Epilepsy research
Published: February 18, 2013
Structural genomic variation in childhood epilepsies with complex phenotypes.
Journal: European journal of human genetics : EJHG
Published: January 27, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Journal: Nature genetics
Published: November 01, 2012
CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.
Journal: Journal of child neurology
Published: July 27, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026