Disease: Microcephaly mental retardation spasticity epilepsy
- <em>GRIN2B</em>-Related Neurodevelopmental Disorder
- <em>SCN3A-</em>Related Neurodevelopmental Disorder
- <em>WDR62</em> Primary Microcephaly
- A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal
- An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency
- An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review
- AP4-assocated hereditary spastic paraplegias
- Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
- Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
- Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
- Clinical features associated with epilepsy occurrence, resolution, and drug resistance in children with cerebral palsy: A population-based study
- Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families
- Dyke-davidoff-masson syndrome: A case report of an adolescent boy at a tertiary hospital in Adamawa, North-Eastern Nigeria
- Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies
- Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant
- Mutations in TAF8 cause a neurodegenerative disorder
- Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
- TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature
- TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
- Type 1 early infantile epileptic encephalopathy: A case report and literature review
- WDR62 Primary Microcephaly