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List of works by Anne de Saint-Martin

A pediatric case of Fisher-Bickerstaff spectrum

scientific article published on 01 February 2010

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

scientific article published on 24 December 2013

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

scientific article published on 01 January 2011

Antiepileptic effect of high-frequency stimulation of the subthalamic nucleus (corpus luysi) in a case of medically intractable epilepsy caused by focal dysplasia: a 30-month follow-up: technical case report.

scientific article published in June 2002

Cognitive functions in children with benign childhood epilepsy with centrotemporal spikes (BECTS).

scientific article published in March 2006

Congenital hyperekplexia: five sporadic cases.

scientific article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates

scientific article published on 20 July 2007

Early-Onset Ophthalmoplegia in Leigh-Like Syndrome Due to NDUFV1 Mutations

scientific article published on 01 January 2007

Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.

scientific article published on 13 February 2016

Epileptic encephalopathy with continuous spike-waves during sleep: the need for transition from childhood to adulthood medical care appears to be related to etiology

scientific article published on August 2014

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

scientific article published on 29 October 2015

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

scientific article published on 17 July 2015

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

scientific article

Idiopathic focal epilepsies: the "lost tribe".

scientific article

Intelligence quotient improves after antiepileptic drug withdrawal following pediatric epilepsy surgery

scientific article published in July 2015

Landau-Kleffner syndrome is not an eponymic badge of ignorance.

scientific article published on 27 June 2006

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

scientific article published on 15 July 2015

Metabolic evidence for remote inhibition in epilepsies with continuous spike-waves during sleep.

scientific article published on 8 December 2007

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

scientific article

Severe relapse of epilepsy after vigabatrin withdrawal: for how long should we treat symptomatic infantile spasms?

scientific article published in March 2007

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

scientific article

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

The onset of acute oxcarbazepine toxicity related to prescription of clarithromycin in a child with refractory epilepsy.

scientific article published on March 2010

Topiramate: efficacy and tolerability in children according to epilepsy syndromes.

scientific article published in March 2003

[Epilepsy in the child and in the adult. Part 1. Epilepsy in the child]

article by Anne de Saint-Martin & Vincent Laugel published 1 May 2014 in La Revue du praticien

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