List of works - Arvid Suls

"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency

scientific article published on September 1, 2011

A novel GABRG2 mutation associated with febrile seizures

scientific article published on 01 August 2006

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

scientific article published on 01 September 2012

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

scientific article published on 23 June 2010

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

scientific article

Do mutations in SCN1B cause Dravet syndrome?

scientific article

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

scientific article published on 18 March 2014

Early and effective treatment of KCNQ2 encephalopathy.

scientific article

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

scientific article published in September 2009

Epilepsy as part of the phenotype associated with ATP1A2 mutations

scientific article published on 19 November 2007

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

scientific article

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

scientific article

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.

scientific article published on 19 May 2010

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

scientific article published on 12 March 2014

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

scientific article

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

scientific article published on 09 May 2011

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

scientific article

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

scientific article

Lessons learned from gene identification studies in Mendelian epilepsy disorders.

scientific article

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

scientific article published on 19 July 2016

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

scientific journal article

Memory CD4 T cell receptor repertoire data mining as a tool for identifying cytomegalovirus serostatus

scientific article published on 15 June 2018

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

scientific article

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

scientific article published on 30 September 2010

PRRT2 mutations: exploring the phenotypical boundaries.

scientific article published on 7 October 2013

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

scientific article

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

scientific article

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

scientific article

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

scientific article published in April 2017

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

scientific article published on 30 July 2016

The SCN1A variant database: a novel research and diagnostic tool.

scientific article published in October 2009

The genetics of Dravet syndrome.

scientific article published on April 2011

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

scientific article published on 8 January 2013

List of works by Arvid Suls

"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency

A novel GABRG2 mutation associated with febrile seizures

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Do mutations in SCN1B cause Dravet syndrome?

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Early and effective treatment of KCNQ2 encephalopathy.

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

Epilepsy as part of the phenotype associated with ATP1A2 mutations

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

Lessons learned from gene identification studies in Mendelian epilepsy disorders.

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

Memory CD4 T cell receptor repertoire data mining as a tool for identifying cytomegalovirus serostatus

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

PRRT2 mutations: exploring the phenotypical boundaries.

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

The SCN1A variant database: a novel research and diagnostic tool.

The genetics of Dravet syndrome.

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