Epilepsia. 2025 Jun 9. doi: 10.1111/epi.18495. Online ahead of print., .  et al. 0

Pierret C

a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene., .  et al. 0

response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.", .  et al. 0

resulting in the partial deletion of WASF1 in monozygotic twins, .  et al. 0

and three missense variants

A., .  et al. 0

K. A.; Murphy

, .  et al. 0

Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects. - PubMed - NCBI

Dufour L, .  et al. 0

Ville D

Lancet Reg Health Eur. 2025 Jan 6, .  et al. 0

PFMG2025 contributors

J. J.", .  et al. 0

a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene;Gene;;0378-1119;;;We report the characterization of a new Caenorhabditis elegans gene

Víctor, .  et al. 0

Jordan C.; Sveden

, .  et al. 0

whether a direct causal relationship exists between these variables., .  et al. 0

, .  et al. 0

Am J Hum Genet. 2025 Jan 2, .  et al. 0

Sabeh P

, .  et al. 0

Manuela, .  et al. 0

Richard; Ramelli

whereas the third missense variant directly influenced the cis-dimerization interface of PCDHGC4. CONCLUSION: We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans., .  et al. 0

L., .  et al. 0

P.; Leroux

, .  et al. 0

Genet Med. 2025 Apr, .  et al. 0

Cali E