Related references
Note: Only part of the references are listed.Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3
Akihisa Okumura et al.
EPILEPSIA (2011)
Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A
Marilena Vecchi et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2011)
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
Ana Cristina Victorino Krepischi et al.
EPILEPSIA (2010)
Mapping of Partially Overlapping de novo Deletions Across an Autism Susceptibility Region (AUTS5) in Two Unrelated Individuals Affected by Developmental Delays With Communication Impairment
Dianne F. Newbury et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
Helle Lybaek et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases
Josef Davidsson et al.
EPILEPSY RESEARCH (2008)
2q24-q31 Deletion: Report of a case and review of the literature
C. Pescucci et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2007)
Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy
S Langer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Cloning and characterization of a new human UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, designated pp-GalNAc-T13, that is specifically expressed in neurons and synthesizes GalNAc α-serine/threonine antigen
Y Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Mutations in NR4A2 associated with familial Parkinson disease
WD Le et al.
NATURE GENETICS (2003)
Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes
B Chioza et al.
EPILEPSY RESEARCH (2002)
Identification of critical residues controlling G protein-gated inwardly rectifying K+ channel activity through interactions with the βγ subunits of G proteins
C He et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
G-protein mediated gating of inward-rectifier K+ channels
MD Mark et al.
EUROPEAN JOURNAL OF BIOCHEMISTRY (2000)
Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?
SM Maas et al.
CLINICAL DYSMORPHOLOGY (2000)