Donncha Hanrahan

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng et al. · Brain · 2022 · 137 citations · Full text

Neurological Disorder, Scn1a Variants Cluster, Therapeutic Implications +18

SURF1 deficiency: a multi-centre natural history study

Yehani Wedatilake, Ruth M. Brown, Robert McFarland et al. · Orphanet Journal of Rare Diseases · 2013 · 133 citations · Full text

Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES)

Marjorie Illingworth, Donncha Hanrahan, Claire E. Anderson et al. · Developmental Medicine & Child Neurology · 2011 · 59 citations · Full text

Neuropsychology, Neurological Disorder, Immunology +16

Towards the identification of a genetic basis for <scp>L</scp>andau‐<scp>K</scp>leffner <scp>s</scp>yndrome

Judith Conroy, Paul McGettigan, Dara McCreary et al. · Epilepsia · 2014 · 55 citations