D. Ville

F. Rivier, D. Ville, V. des Portes, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

D. Ville, V. des Portes, J. Lemke, 2017, European Journal of Human Genetics.

P. Kind, J. Hentschel, D. Mitter, 2018, Brain : a journal of neurology.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

H. Mefford, O. Devinsky, A. Bayat, 2022, EBioMedicine.

Early Pattern of Epilepsy in the Ring Chromosome 20 Syndrome

A. Biraben, O. Dulac, C. Chiron, 2006, Epilepsia.

Cryptogenic Late‐onset Epileptic Spasms: An Overlooked Syndrome of Early Childhood?

O. Dulac, C. Chiron, A. Kaminska, 2006, Epilepsia.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

C. Depienne, A. Toutain, C. Rooryck, 2017, Jornal de Pediatria.

Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall

L. Mazzola, P. Convers, D. Ville, 2011, Epileptic disorders : international epilepsy journal with videotape.

A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child

D. Ville, E. Javouhey, V. Manel, 2015, Child neurology open.

Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.

D. Ville, V. des Portes, C. Ginguéné, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy

D. Ville, G. Lesca, A. Labalme, 2022, Proceedings of the National Academy of Sciences of the United States of America.

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

J. Thevenon, R. Nabbout, D. Ville, 2022, European journal of medical genetics.

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Anne de Saint Martin, N. Burnashev, T. Tsintsadze, 2013, Nature Genetics.

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4‐year‐old girl

R. Touraine, D. Ville, J. Dupont, 2014, American journal of medical genetics. Part A.

Key clinical features to identify girls with CDKL5 mutations.

N. Boddaert, A. Afenjar, C. Philippe, 2008, Brain : a journal of neurology.

Phenotypic and Imaging Spectrum Associated With WDR45.

Denise L. Perry, A. Vanderver, R. Taft, 2020, Pediatric neurology.

Pericallosal lipoma associated with Pai syndrome: prenatal imaging findings

D. Ville, R. Rudigoz, L. Guibaud, 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counselling

D. Ville, P. Gaucherand, V. Portes, 2012, Prenatal diagnosis.

Molecular and clinical descriptions of patients with GABAA receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation

R. Nabbout, D. Ville, B. Desnous, 2022, Epilepsia.

RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.

J. Bacchetta, B. Ranchin, D. Ville, 2019, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report

D. Ville, R. Dubois, E. Javouhey, 2012, American journal of medical genetics. Part A.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

D. Ville, V. des Portes, G. Lesca, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Autoimmune limbic encephalopathy and anti-Hu antibodies in children without cancer

F. Ducray, J. Honnorat, J. Delattre, 2013, Neurology.

Epilepsy in young Tsc1+/− mice exhibits age‐dependent expression that mimics that of human tuberous sclerosis complex

F. Wendling, G. Huberfeld, O. Dulac, 2016, Epilepsia.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017, Brain : a journal of neurology.

Prophylactic antiepileptic treatment in Sturge–Weber disease

O. Dulac, C. Chiron, D. Ville, 2002, Seizure.

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

H. Mefford, Y. Marie, S. Sisodiya, 2016, Journal of Medical Genetics.

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

D. Ville, L. Villard, M. Milh, 2015, Epilepsy Research.

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

M. Baulac, V. Navarro, S. Antonarakis, 2014, Neurology.

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

P. Ryvlin, L. Maillard, P. Genton, 2010, Epilepsia.

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation

C. Korff, F. Lehmann-Horn, D. Ville, 2019, Neuropediatrics.

[Diagnostic investigations for an unexplained developmental disability].

A. Afenjar, A. Verloes, C. Baumann, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

TBC1D24 genotype–phenotype correlation

J. Rosenfeld, I. Scheffer, J. Gécz, 2016, Neurology.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

S. Antonarakis, P. Milani, S. Auvin, 2016, American journal of human genetics.

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

M. Jaatun, K. Katanyuwong, P. Kwan, 2018, Epilepsia open.

Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: A French multicenter retrospective study

S. Auvin, M. Schaeffer, R. Nabbout, 2017, Epilepsy Research.

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

M. Jaatun, K. Katanyuwong, E. Pataraia, 2021, Orphanet Journal of Rare Diseases.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

D. Mitter, G. Rubboli, R. Møller, 2019, Neurology. Genetics.

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

C. Walsh, L. Zon, A. Munnich, 2014, American journal of human genetics.

[Epilepsy in chromosome aberrations].

C. Chiron, A. Kaminska, D. Ville, 2005, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Kiely N. James, A. Fatemi, M. Tarnopolsky, 2019, The Journal of clinical investigation.

F. Bartolomei, P. Striano, A. Coppola, 2021, Brain : a journal of neurology.

Can fever treat epileptic encephalopathies?

O. Dulac, A. Kaminska, D. Ville, 2007, Epilepsy Research.

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

D. Ville, V. des Portes, M. Till, 2009, Developmental medicine and child neurology.

Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex

R. Touraine, R. Nabbout, D. Ville, 2019, Epilepsy & Behavior.

Pre- and postnatal imaging of early cerebral damage in Sturge-Weber syndrome

D. Ville, L. Guibaud, M. Cagneaux, 2013, Pediatric Radiology.

The ketogenic diet can be used successfully in combination with corticosteroids for epileptic encephalopathies

O. Dulac, C. Chiron, D. Ville, 2015, Epilepsy & Behavior.

Genome search for susceptibility loci of common idiopathic generalised epilepsies.

T. Wienker, A. Sundquist, J. Prud'homme, 2000, Human molecular genetics.

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

N. Guex, A. Reymond, I. Xenarios, 2015, European Journal of Human Genetics.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

M. Jaatun, K. Katanyuwong, E. Pataraia, 2018, Orphanet Journal of Rare Diseases.

Agenesis of the corpus callosum with interhemispheric cyst, associated with aberrant cortical sulci and without underlying cortical dysplasia

D. Ville, L. Guibaud, C. Huissoud, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

M. Sitbon, O. Boespflug-Tanguy, F. Mochel, 2023, Neurology.

Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study

R. Nabbout, D. Ville, J. Pedespan, 2020, Frontiers in Neurology.

Ictal SPECT in children with epilepsy: comparison with intracranial EEG and relation to postsurgical outcome.

O Delalande, G. Dellatolas, O. Dulac, 2003, Brain : a journal of neurology.

SPECT: ictal perfusion in childhood epilepsies.

O. Dulac, C. Chiron, P. Véra, 2000, Advances in neurology.

Single-photon emission computed tomography: ictal perfusion in childhood epilepsies

O. Dulac, C. Chiron, P. Véra, 1999, Brain and Development.

Use of subtraction ictal SPECT co-registered to MRI for optimizing the localization of seizure foci in children.

I Gardin, O. Dulac, C. Chiron, 1999, Journal of nuclear medicine : official publication, Society of Nuclear Medicine.

CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.

D. Ville, A. Arzimanoglou, G. Lesca, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features

D. Ville, M. Butin, M. Massoud, 2023, Fetal Diagnosis and Therapy.

Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME

P. Froguel, L. Nashef, P. Asherson, 2001, Epilepsy Research.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017 .

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.

T. Wienker, J. Prud'homme, F. Zara, 2002, American journal of medical genetics.

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

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

R. Touraine, D. Ville, V. des Portes, 2015, European journal of medical genetics.