Need Help?

Paroxysmal neurological disorders

We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000021 Illumina Genome Analyzer II Illumina HiSeq 2000 97
EGAD00001000108 Illumina Genome Analyzer II Illumina HiSeq 2000 327
Publications Citations
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
Am J Hum Genet 95: 2014 360-370
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Nat Genet 47: 2015 39-46
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
EMBO Mol Med 7: 2015 1580-1594
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.
Eur J Hum Genet 25: 2017 894-899
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
PLoS Genet 13: 2017 e1007104
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Am J Hum Genet 104: 2019 1060-1072
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nat Commun 11: 2020 595
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Am J Hum Genet 107: 2020 683-697
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Brain 145: 2022 1684-1697