Mutations in DEPDC5 cause familial focal epilepsy with variable foci

…, DE Crompton, JN Hughes, ST Bellows, KM Klein… - Nature …, 2013 - nature.com
The majority of epilepsies are focal in origin, with seizures emanating from one brain region.
Although focal epilepsies often arise from structural brain lesions, many affected individuals …

Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

…, L Jutila, A Kalina, R Kälviäinen, KM Klein… - The Lancet …, 2020 - thelancet.com
Background Surgery is a widely accepted treatment option for drug-resistant focal epilepsy.
A detailed analysis of longitudinal postoperative seizure outcomes and use of antiepileptic …

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

…, D Wieczorek, J Kroell-Seger, C Lund, KM Klein… - Brain, 2022 - academic.oup.com
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals
carrying disease-causing variants in SCN8A, encoding the voltage-gated Na + channel …

Precision medicine in genetic epilepsies: break of dawn?

…, MH Tsai, I Helbig, F Rosenow, KM Klein - Expert review of …, 2017 - Taylor & Francis
Introduction: Therapy with current antiepileptic drugs aims at reducing the likelihood of
seizure occurrence rather than influencing the underlying disease process. Therefore, …

[PDF][PDF] De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

…, D Hoffman-Zacharska, J Jähn, KM Klein… - The American Journal of …, 2014 - cell.com
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further …

The phenotypic spectrum of SCN8A encephalopathy

…, J Jähn, J Lemke, JM Serratosa, K Selmer, KM Klein… - Neurology, 2015 - AAN Enterprises
Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Na v 1.6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders. …

[PDF][PDF] Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

…, L Sedláčková, P Laššuthová, KM Klein… - The American Journal of …, 2019 - cell.com
Sequencing-based studies have identified novel risk genes associated with severe epilepsies
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …

[HTML][HTML] Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

…, B Horsthemke, E LeGuern, KM Klein… - Nature …, 2019 - nature.com
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized
by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (…

[HTML][HTML] Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

…, R Van Coller, MAJ Tijssen, KM Klein… - Nature …, 2019 - nature.com
Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually
from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. …

Postmarketing experience with brivaracetam in the treatment of epilepsies: a multicenter cohort study from Germany

…, F von Podewils, G Möddel, S Bauer, KM Klein… - …, 2017 - Wiley Online Library
Objective To evaluate factors predicting efficacy, retention, and tolerability of add‐on brivaracetam
( BRV ) in clinical practice. Methods A multicenter, retrospective cohort study recruiting …