Mary Kay Koenig

Phenotype of GABA-transaminase deficiency

W. Chung, P. Bonnen, J. Riviello, 2017, Neurology.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Nurit Assia Batzir, J. Schuurs-Hoeijmakers, R. Pfundt, 2024, American journal of human genetics.

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

H. Weiner, E. Thiele, J. Wheless, 2021, Pediatric neurology.

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Ye Htet Aung, S. Berkovic, S. Petrou, 2019, Annals of clinical and translational neurology.