S. Usluer

Pitfalls in genetic testing: the story of missed SCN1A mutations

G. Carvill, I. Scheffer, H. Mefford, 2016, Molecular genetics & genomic medicine.

Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy

D. Turkdoğan, F. Akalın, S. Usluer, 2017, Seizure.

Optimised whole-genome CRISPR interference screens identify ARID1A-dependent growth regulators in human induced pluripotent stem cells

L. Crepaldi, O. Dovey, L. Parts, 2022, bioRxiv.

Late-Onset Myoclonic Epilepsy in Down Syndrome: Investigation of EPM1 Gene Mutations in two Cases

H. Caglayan, B. Baykan, E. Vanli-yavuz, 2016 .

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

S. Sisodiya, M. Hanna, E. Matthews, 2019, Epilepsia open.

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

P. Nürnberg, J. Altmüller, H. Thiele, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Optimized whole-genome CRISPR interference screens identify ARID1A-dependent growth regulators in human induced pluripotent stem cells

L. Crepaldi, O. Dovey, L. Parts, 2023, Stem cell reports.

Characterization of the genetic basis of FXI deficiency in two Turkish patients

V. Rimoldi, S. Aksu, S. Duga, 2009, Haemophilia : the official journal of the World Federation of Hemophilia.

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

P. Nürnberg, J. Altmüller, H. Thiele, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations

B. Kara, N. Bebek, U. Yiş, 2016, Seizure.