Jun 2026· Zeitschrift für Induktive Abstammungs- und Vererbungslehre· Vol 301· 0 citations· 45 references
Medicine
TL;DR
In-silico analysis indicated that substitution of tryptophan with cysteine resulted in the loss of an intramolecular interaction, which may affect protein folding, and emphasizes that CLN8-related phenotype can include severe treatment-resistant psychosis and also provides a genotypic extension.
This study may expand the mutation and phenotypic spectrum of SETD1A-related disorders, establishing the relationship between SETD1A variants and isolated early-onset epilepsy without accompanying severe neurodevelopmental deficits, and highlighting the value of genetic testing in infants with unexplained epilepsy.
Rina Su, Lei Zhu, Lin Jiang et al.· Frontiers in Neuroscience· 0 citations
This is the second report of autosomal recessive epilepsy associated with biallelic CACNB4 variants and genetic investigations play a crucial role in identifying mutation hotspots, facilitating more accurate diagnoses and enhancing the design of diagnostic panels for early detection.
It is proposed that FFA's effectiveness stems from its ability to address two core pathologies of SV2A deficiency: correction of the excitatory/inhibitory imbalance by restoring inhibitory tone through its serotonergic mechanism, and mitigation of neuroinflammation, thereby stabilizing the neuronal network.
This case expands the clinical spectrum associated with RFX3 variants, supporting a potential role in IESS and early neurodevelopmental disruption, and highlights the relevance of including RFX3 in the genetic evaluation of patients with IESS and co-occurring neurodevelopmental disorders.
Graziana Ceraolo, Giulia Spoto, M. Trivisano et al.· International Journal of Mol...· 0 citations
CACNA1C is potentially a candidate causative gene of focal epilepsy and the genotype-phenotype correlation of CACNA1C helps explain phenotypic heterogeneity.
Yan-Fang Li, Pei Mo, Lan-Zhen Zhang et al.· Journal of Medical Genetics· 0 citations
The findings support a possible domain‐related genotype–phenotype association for the role of ALG13 in neurodevelopmental disorders and provide additional developmental context for the role of ALG13 in neurodevelopmental disorders.
Song Su, Wandong Hu, Ying Ren et al.· Human Mutation· 0 citations
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