Experience with the Ketogenic Diet in a Boy with Related Neurodevelopmental Disorder.

Raynaud-Claes syndrome is rare condition characterized with intellectual disability and is caused by X-linked pathogenic variants in gene. Hemizygous missense variant NM_001830.4: c.

Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.

Objectives: PYCR2 gene variants are extremely rare condition which is associated with hypomyelinating leukodystrophy type 10 with microcephaly (HLD10). The aim of the present study is to report the clinical findings of patients having novel PYCR2 gene variant that manifest Hereditary Spastic Paraplegia (HSP) is the only symptom without hypomyelinating leukodystrophy. This is the first study that report the PYCR2 gene variants as a cause of HSP in late childhood.

Evaluation of long-term neurocognitive functions in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS)/epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS).

Objectives: Epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) or the newly named Epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) is a syndrome in which epileptiform abnormalities are associated with the progressive impairment of cognitive functions. This study aimed to evaluate the neurocognitive executive functions of patients at later ages and determine the long-term prognosis of the condition, as well as the factors affecting this.

Methods: This is a hospital-based cross-sectional study of 17 patients with a diagnosis of CSWS, and a minimum age of 7.

Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may affect any ocular segment including characteristic, small, atonic pupils. WARBM is known to be caused by biallelic, pathogenic variants in at least five genes although additional genetic loci may exist.