Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT Seyedeh Atiyeh AfjeiMohammad Farid MohammadiMorteza Heidari Original Article 12 January 2023 Pages: 67 - 78
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms Laura HecherFrederike L. HarmsKerstin Kutsche Original Article 19 January 2023 Pages: 79 - 93
Two patients with KDM3B variants and new presentations of Diets–Jongmans syndrome Xiangyue ZhaoTingting YuJian Wang Original Article 09 February 2023 Pages: 95 - 101
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB Alice AbdelAleemNaim HaddadAhmed Elsotouhy Original Article Open access 13 February 2023 Pages: 103 - 112
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families Haseena SaitSomya SrivastavaAmita Moirangthem Original Article 15 February 2023 Pages: 113 - 127
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients Peiwei ZhaoQingjie MengXuelian He Original Article 21 February 2023 Pages: 129 - 136
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations Chunwang LiPenghui LiuFuxin Lin Original Article 09 March 2023 Pages: 137 - 146