Anna-Kaisa Anttonen

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

Eija Siintola, Meral Topçu, Nina Aula et al. · The American Journal of Human Genetics · 2007 · 230 citations · Full text

Life Sciences, Genetics, Neuroscience +12

<i>SCN2A</i> mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

Yunxiang Liao, Anna-Kaisa Anttonen, Esa Liukkonen et al. · Neurology · 2010 · 163 citations

Life Sciences, Genetics, Neuroscience +17

PRRT2 Mutations are the major cause of benign familial infantile seizures

Julian Schubert, Roberta Paravidino, Felicitas Becker et al. · Human Mutation · 2012 · 107 citations

Life Sciences, Genetics, Molecular Genetics +12

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Anna-Kaisa Anttonen, Taru Hilander, Tarja Linnankivi et al. · Neurology · 2015 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Yuri A. Zárate, Tomoko Uehara, Kota Abe et al. · Genetics in Medicine · 2021 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14