Laura L. Klitten

Copenhagen, Denmark

Last Updated: 09/26/2026

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Found 12 publications

Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family.

Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family.

Journal: European journal of medical genetics

Published: May 21, 2015

Dysregulation of FOXG1 by ring chromosome 14.

Dysregulation of FOXG1 by ring chromosome 14.

Journal: Molecular cytogenetics

Published: January 28, 2015

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy.

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy.

Journal: Annals of clinical and translational neurology

Published: December 04, 2013

Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies.

Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies.

Journal: Journal of child neurology

Published: October 12, 2013

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.

Journal: Epilepsia

Published: January 17, 2013

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.

Journal: Epilepsia

Published: November 14, 2012

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Journal: Human mutation

Published: June 15, 2012

The role of SLC2A1 in early onset and childhood absence epilepsies.

The role of SLC2A1 in early onset and childhood absence epilepsies.

Journal: Epilepsy research

Published: May 31, 2012

Genetic studies in congenital anterior midline cervical cleft.

Genetic studies in congenital anterior midline cervical cleft.

Journal: American journal of medical genetics. Part A

Published: February 09, 2012

A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).

A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).

Journal: Epilepsia

Published: November 05, 2011

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: October 18, 2011

9q Subtelomeric deletion syndrome with diaphragmatic hernia.

9q Subtelomeric deletion syndrome with diaphragmatic hernia.

Journal: American journal of medical genetics. Part A

Published: April 28, 2009

Showing 1-12 of 12

Last Updated: 09/26/2026