Apparent Germline Mosaicism for a Novel 19p13.13 Deletion DisruptingNFIXandCACNA1A

Large genomic deletions in CACNA1A cause episodic ataxia type 2

(2011) Jijun Wan   Frontiers in Neurology

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

(2010) Marzena Gajecka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

19p13.3 Aberrations Are Associated with Dysmorphic Features and Deviant Psychomotor Development

(2010) L. Siggberg et al.   CYTOGENETIC AND GENOME RESEARCH

A novel microdeletion/microduplication syndrome of 19p13.13

(2010) Michelle Dolan et al.   GENETICS IN MEDICINE

The UCSC Genome Browser database: update 2011

(2010) P. A. Fujita et al.   NUCLEIC ACIDS RESEARCH

A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion

(2009) Philippe A. Lysy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 includingCACNA1Aassociated with mental retardation and epilepsy with infantile spasms

(2009) Stéphane Auvin et al.   EPILEPSIA

Identification of CACNA1A large deletions in four patients with episodic ataxia

(2009) Florence Riant et al.   NEUROGENETICS

Role of voltage-gated calcium channels in epilepsy

(2009) Gerald W. Zamponi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

The transcription factor Nfix is essential for normal brain development

(2008) Christine E Campbell et al.   BMC DEVELOPMENTAL BIOLOGY

Stepwise Developmental Regression Associated With Novel CACNA1A Mutation

(2008) Andrea A. Guerin et al.   PEDIATRIC NEUROLOGY