N. Bahi-Buisson

D. Lev, W. Dobyns, L. Ben‐Sira, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

O. Devinsky, J. Cross, A. Clarke, 2022, Frontiers in Neurology.

Genetically determined encephalopathy: Rett syndrome.

N. Bahi-Buisson, 2013, Handbook of clinical neurology.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

V. Fraix, L. Kremer, M. Koenig, 2021, Genetics in Medicine.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

J. Sahel, M. Polak, N. Boddaert, 2020, American journal of human genetics.

International consensus recommendations on the diagnostic work-up for malformations of cortical development

E. Aronica, O. Reiner, L. M. Valor, 2020, Nature Reviews Neurology.

Long term response to steroid therapy in Rasmussen encephalitis

O. Dulac, C. Bulteau, C. Chiron, 2007, Seizure.

The Nonmalformed Hemisphere Is Secondarily Impaired in Young Children with Hemimegalencephaly: A Pre‐ and Postsurgery Study with SPECT and EEG

O. Dulac, C. Bulteau, C. Chiron, 2004, Epilepsia.

The phenotype associated with a large deletion on MECP2

H. Leonard, M. Pineda, N. Bahi-Buisson, 2012, European Journal of Human Genetics.

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

J. Christodoulou, H. Leonard, D. Ravine, 2009, Journal of Medical Genetics.

Transition issues for children with diffuse cortical malformations, multifocal postnatal lesions, (infectious and traumatic) and Lennox–Gastaut and similar syndromes

P. Camfield, E. Trinka, N. Bahi-Buisson, 2014, Epilepsia.

Linking MECP2 and pain sensitivity: The example of Rett syndrome

H. Leonard, D. Ravine, P. Jacoby, 2010, American journal of medical genetics. Part A.

Delineating FOXG1 syndrome

E. Haan, D. Lev, F. Rivier, 2018, Neurology: Genetics.

Early Pattern of Epilepsy in the Ring Chromosome 20 Syndrome

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

E. Bertini, M. Baulac, C. Fallet-Bianco, 2010, Brain : a journal of neurology.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

Conditional switching of KIF2A mutation provides new insights into cortical malformations pathogeny.

N. Drouot, H. Meziane, B. Yalcin, 2020, Human molecular genetics.

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

A. Laquérriere, M. Gonzalès, J. Chelly, 2016, European journal of medical genetics.

Altered microtubule dynamics in Mecp2‐deficient astrocytes

J. Chelly, J. Nectoux, C. Florian, 2012, Journal of neuroscience research.

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.

A. Afenjar, J. Chelly, B. Girard, 2007, Pediatric neurology.

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

P. de Lonlay, A. Brassier, N. Bahi-Buisson, 2018, JIMD reports.

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

A. Munnich, N. Boddaert, H. Esch, 2012, European Journal of Human Genetics.

A FOXG1 mutation in a boy with congenital variant of Rett syndrome

N. Boddaert, J. Chelly, J. Nectoux, 2011, neurogenetics.

Epileptic phenotypes in children with respiratory chain disorders

A. Munnich, N. Boddaert, A. Rötig, 2010, Epilepsia.

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

D. Baralle, A. Laquérriere, S. Mansour, 2022, Journal of Medical Genetics.

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS Genetics.

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

C. Depienne, A. Afenjar, O. Dulac, 2009, Epilepsy Research.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

A. Munnich, N. Boddaert, S. Hanein, 2018, Brain : a journal of neurology.

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS genetics.

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

J. Chelly, T. Bienvenu, L. B. Jemaa, 2008, European Journal of Human Genetics.

Epilepsy in Rett syndrome—Lessons from the Rett networked database

Rachel S. Levy-Drummer, A. Vignoli, A. Clarke, 2015, Epilepsia.

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.

F. Rivier, A. Toutain, V. Drouin‐Garraud, 2013, Gene.

Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships

H. Van Esch, G. Matthijs, T. Bienvenu, 2012, American journal of medical genetics. Part A.

T. Bienvenu, N. Bahi-Buisson, 2012, Molecular syndromology.

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

J. Chelly, J. Nectoux, Y. Fichou, 2011, Journal of Human Genetics.

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy

J. Chelly, J. Nectoux, Y. Fichou, 2011, Journal of Molecular Medicine.

Key clinical features to identify girls with CDKL5 mutations.

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

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

C. Philippe, P. Jonveaux, J. Chelly, 2007, Journal of Medical Genetics.

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

S. Julia, M. Cossée, J. Mandel, 2011, American journal of medical genetics. Part A.

Spectrum of epilepsy in terminal 1p36 deletion syndrome

A. Battaglia, A. Afenjar, A. Verloes, 2008, Epilepsia.

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

D. Montanaro, R. Borgatti, F. Zara, 2020, Neurology.

Analysis of the Phenotypes in the Rett Networked Database

A. Vignoli, A. Clarke, J. Armstrong, 2019, International journal of genomics.

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene

J. Chelly, B. Girard, J. Nectoux, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

E. Welker, P. Berquin, G. Mancini, 2014, Nature Neuroscience.

Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.

C. Delanoé, S. Auvin, O. Boespflug-Tanguy, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

N. Boddaert, A. Kaminska, J. Pedespan, 2015, European journal of medical genetics.

Rett networked database: An integrated clinical and genetic network of rett syndrome databases

A. Vignoli, A. Clarke, J. Armstrong, 2012, Human mutation.

Somatic mosaicism for a FOXG1 mutation: diagnostic implication

J. Nectoux, T. Bienvenu, N. Bahi-Buisson, 2014, Clinical genetics.

Molar Tooth Sign and Superior Vermian Dysplasia: A Radiological, Clinical, and Genetic Study

A. Munnich, D. Seidenwurm, N. Boddaert, 2006, Neuropediatrics.

Infantile Spasms as an Epileptic Feature of DEND Syndrome Associated With an Activating Mutation in the Potassium Adenosine Triphosphate (ATP) Channel, Kir6.2

C. Bellanné-Chantelot, O. Dulac, C. Chiron, 2007, Journal of child neurology.

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

S. Auvin, R. Nabbout, A. Kaminska, 2019, Brain : a journal of neurology.

A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human

C. Legay, S. Sigoillot, V. Bernard, 2015, Neuromuscular Disorders.

Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase

N. Boddaert, O. Dulac, F. Escande, 2008, Seizure.

Neurological aspects of hyperinsulinism–hyperammonaemia syndrome

C. Dionisi, F. Escande, E. Roze, 2008, Developmental medicine and child neurology.

Respiratory chain deficiency in a female with Aicardi‐Goutières syndrome

A. Munnich, L. Hertz-Pannier, N. Boddaert, 2006, Developmental medicine and child neurology.

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

A. Munnich, N. Boddaert, C. Bole-Feysot, 2016, Orphanet Journal of Rare Diseases.

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.

A. Munnich, D. Seidenwurm, N. Boddaert, 2008, Molecular genetics and metabolism.

Erratum: Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation( Pediatrics (2008) 121 (404-410))

C. Romano, E. Zackai, H. Hoyme, 2008 .

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

J. Chelly, J. Nectoux, Y. Fichou, 2010, Journal of cellular and molecular medicine.

The location of DCX mutations predicts malformation severity in X-linked lissencephaly

N. Boddaert, C. Elie, J. Chelly, 2008, Neurogenetics.

[Recent advances in pathogenic concepts and therapeutic strategies in Rasmussen's encephalitis].

O. Dulac, C. Bulteau, C. Chiron, 2005, Revue neurologique.

Atypical presentation of neuropsychiatric lupus with acanthosis nigricans.

N. Boddaert, S. Hadj-Rabia, N. Bahi-Buisson, 2012, Pediatric neurology.

Mutations in the Heterotop ia Gene Eml 1 / EML 1 Severely Disrupt the Formation of Primary Cilia Graphical

G. Mancini, A. Boland, A. Houllier, 2019 .

Parental view of epilepsy in Rett Syndrome.

O. Dulac, C. Chiron, R. Nabbout, 2008, Brain & development.

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.

A. Munnich, N. Boddaert, F. Brunelle, 2008, Molecular genetics and metabolism.

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

A. Munnich, N. Boddaert, N. Bahi-Buisson, 2015, neurogenetics.

InterRett, a model for international data collection in a rare genetic disorder.

H. Leonard, J. Armstrong, M. Pineda, 2009, Research in autism spectrum disorders.

[Management of neonatal seizures].

A. Kaminska, C. Barnérias, P. Plouin, 2007, Archives de pédiatrie.

Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues

P. Camfield, E. Thiele, H. Cross, 2017, Epilepsy & Behavior.

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.

Epilepsy in inborn errors of metabolism.

O. Dulac, N. Bahi-Buisson, 2013, Handbook of clinical neurology.

Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

M. Vidailhet, N. Boddaert, D. Devos, 2008, Movement disorders : official journal of the Movement Disorder Society.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

A. Munnich, A. Durr, C. Orssaud, 2016, American journal of human genetics.

Defining the phenotypical spectrum associated with variants in TUBB2A

D. Wieczorek, I. Krägeloh-Mann, G. Mancini, 2020, Journal of Medical Genetics.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Martin W. Breuss, D. Keays, K. Thangaraj, 2012, Cell reports.

Two new cases of serine deficiency disorders treated with l-serine.

N. Boddaert, A. Kaminska, I. Desguerre, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

H. Mefford, A. Fry, D. Pilz, 2018, Brain : a journal of neurology.

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome

M. Bourgeois, R. Nabbout, A. Kaminska, 2021, Clinical Neurophysiology.

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

W. Klonowski, L. Nguyen, Mercedes F. Paredes, 2019, Front. Cell. Neurosci..

[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.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

N. Boddaert, A. Verloes, P. Nitschké, 2017, Brain : a journal of neurology.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

B. Weschke, M. Verbeek, G. Mancini, 2010, Brain : a journal of neurology.

Mutations in Human Beta-2 b Tubulin Result in Asymmetrical Polymicrogyria

A. Represa, D. Keays, C. Fallet-Bianco, 2011 .

Developmental and benign movement disorders in childhood

C. Bonnet, V. Cochen de Cock, E. Roze, 2010, Movement disorders : official journal of the Movement Disorder Society.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

The ketogenic diet improves recently worsened focal epilepsy

O. Dulac, C. Chiron, R. Nabbout, 2009, Developmental medicine and child neurology.

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

A. Munnich, A. Saiardi, N. Boddaert, 2020, Nature Communications.

C. Florian, T. Bienvenu, N. Bahi-Buisson, 2011, Molecular Syndromology.

MeCP2 deficiency is associated with impaired microtubule stability

J. Chelly, J. Nectoux, T. Bienvenu, 2013, FEBS letters.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.

G. Mancini, A. Boland, A. Houllier, 2019, Cell reports.

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

N. Boddaert, L. Robel, A. Philippe, 2015, BMC Psychiatry.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

C. Fallet-Bianco, B. Lhermitte, A. Laquérriere, 2014, Acta neuropathologica communications.

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

N. Boddaert, C. Elie, N. Lebrun, 2014, Brain : a journal of neurology.

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

N. Boddaert, J. Chelly, P. Plouin, 2008, Revue neurologique.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018 .

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

M. Fornerod, L. D. de Vries, A. Afenjar, 2019, American journal of human genetics.

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Matthew T. Sweney, I. Scheffer, T. Fleming, 2022, The Lancet Neurology.

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

J. Chelly, B. Girard, J. Nectoux, 2009, Neurology.

Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

A. Pierani, R. Guerrini, F. Causeret, 2021, bioRxiv.

EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia

M. Lequin, G. Mancini, S. Mandelstam, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

P. Sonigo, A. Benachi, N. Lebrun, 2013, neurogenetics.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

C. Florian, T. Bienvenu, N. Bahi-Buisson, 2011, Molecular Syndromology.

[Epilepsy in chromosome aberrations].

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

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

N. Boddaert, F. Brunelle, D. Lacombe, 2012, Brain : a journal of neurology.

Posterior fossa imaging in 158 children with ataxia.

A. Munnich, M. Zilbovicius, D. Seidenwurm, 2010, Journal of neuroradiology. Journal de neuroradiologie.

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

I. Desguerre, M. Vincent, N. Bahi-Buisson, 2009, European Journal of Human Genetics.

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

J. Chelly, B. Girard, J. Nectoux, 2009, neurogenetics.

Capturing the pathomechanisms of different disease severities in a human cerebral organoid model of LIS1-lissencephaly

N. Bahi-Buisson, F. Francis, A. Jabali, 2022, bioRxiv.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

R. Salomon, D. Rabier, Y. Aigrain, 2013, Molecular genetics and metabolism.

Management of West Syndrome in a Patient With Methylmalonic Aciduria

N. Boddaert, Philippe M. Campeau, O. Dulac, 2010, Journal of Child Neurology.

Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non‐convulsive status epilepticus?

L. Hertz-Pannier, N. Boddaert, O. Dulac, 2008, Developmental medicine and child neurology.

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

N. Drouot, L. Nguyen, N. Lebrun, 2017, Human molecular genetics.

Recurrent KIF2A mutations are responsible for classic lissencephaly

C. Bole-Feysot, J. Steffann, J. Pedespan, 2017, neurogenetics.

J. Chelly, N. Bahi-Buisson, X. Jaglin, 2012 .

Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results

N. Boddaert, P. Sonigo, I. Desguerre, 2021, American Journal of Neuroradiology.

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

Y. Ville, P. Sonigo, M. Vekemans, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Epileptic spasms in congenital disorders of glycosylation.

N. Boddaert, R. Nabbout, A. Kaminska, 2017, Epileptic disorders : international epilepsy journal with videotape.

Fetal brain imaging following laser surgery in twin‐to‐twin surgery

Y. Ville, P. Sonigo, G. Chalouhi, 2018, BJOG : an international journal of obstetrics and gynaecology.

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome

A. Echaniz-Laguna, S. Quijano-roy, I. Desguerre, 2015, Clinical Neurophysiology.

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

N. Boddaert, C. Elie, A. Houdusse, 2013, Brain : a journal of neurology.

Heterogeneity in defining fetal corpus callosal pathology: systematic review

Y. Ville, P. Sonigo, L. Salomon, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

N. Boddaert, L. Pasquier, J. Chelly, 2018, European journal of medical genetics.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

Y. Ville, N. Boddaert, P. Nitschké, 2018, American journal of medical genetics. Part A.

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

J. Chelly, J. Nectoux, M. Tardieu, 2008, Neurology.

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

A. Munnich, L. Christa, D. Bonneau, 2012, JIMD reports.

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France

P. Derambure, P. Kahane, C. Marchal, 2016, Epilepsia.

Atypical case of hemiconvulsions‐hemiplegia‐epilepsy syndrome revealing contralateral focal cortical dysplasia

L. Hertz-Pannier, N. Boddaert, M. Bourgeois, 2005 .

Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia.

L. Hertz-Pannier, N. Boddaert, M. Bourgeois, 2005, Developmental medicine and child neurology.

AJHG The American Journal of Human Genetics

M. Fornerod, A. Afenjar, R. Person, 2019 .

Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy

C. Fallet-Bianco, O. Dulac, A. Kaminska, 2016, Neuropediatrics.

Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

J. Brault, A. Baffet, N. Bahi-Buisson, 2022, Nature Communications.

Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

J. Brault, A. Baffet, N. Bahi-Buisson, 2020, Nature Communications.

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.

N. Boddaert, J. Chelly, I. Desguerre, 2012, European journal of medical genetics.

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p

M. Ruberg, O. Dulac, C. Chiron, 2007, Neurology.

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

N. Boddaert, A. Millischer, D. Moshous, 2017, American journal of medical genetics. Part A.

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

R. Scharfmann, M. Polak, H. Cavé, 2015, Diabetes Care.

[Treatment of childhood dystonia].

B. Echenne, E. Roze, N. Bahi-Buisson, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Mosaic DCX deletion causes subcortical band heterotopia in males

N. Boddaert, L. Vercueil, J. Chelly, 2012, neurogenetics.

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome

C. Garel, N. Bahi-Buisson, J. Fluss, 2015, Neuropediatrics.

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.

N. Boddaert, P. Nitschké, M. Hully, 2018, European journal of medical genetics.

A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture

M. Selloum, C. Cifuentes-Díaz, N. Bahi-Buisson, 2023, Neurobiology of Disease.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.

L. Christa, P. de Lonlay, M. Maubert, 2015, JIMD reports.

MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

Nathalie Boddaert, Arnold Munnich, Francis Brunelle, 2009, PloS one.

Activation of the PI3K/AKT/mTOR Pathway in Cajal–Retzius Cells Leads to Their Survival and Increases Susceptibility to Kainate-Induced Seizures

A. Pierani, S. Moriceau, N. Rouach, 2023, International journal of molecular sciences.

Gross motor profile in rett syndrome as determined by video analysis.

W. Kaufmann, M. Msall, H. Leonard, 2008, Neuropediatrics.

Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

W. Kaufmann, M. Msall, H. Leonard, 2008 .

Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry

I. Scheffer, O. Devinsky, M. Ruzhnikov, 2023, Orphanet Journal of Rare Diseases.

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size

N. Bahi-Buisson, S. Passemard, Sarah Farcy, 2023, Cells.

Polysomnographic findings in Rett syndrome.

N. Bahi-Buisson, B. Fauroux, A. Amaddeo, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[Treatment of status epilepticus in children with epilepsy].

C. Chiron, P. Plouin, N. Bahi-Buisson, 2001, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Neonatal epilepsy and inborn errors of metabolism].

O. Dulac, R. Nabbout, A. Kaminska, 2006, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Rare ACTG1 variants in fetal microlissencephaly.

C. Fallet-Bianco, A. Laquérriere, A. Boland, 2015, European journal of medical genetics.

Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders

M. Vidailhet, D. Grabli, C. Moreau, 2010, Movement disorders : official journal of the Movement Disorder Society.

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

N. Boddaert, L. Salomon, P. Nitschké, 2018, European journal of medical genetics.

A cognitive and affective pattern in posterior fossa strokes in children: a case series

N. Boddaert, F. Brunelle, O. Dulac, 2010, Developmental medicine and child neurology.

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

Anita Burgun-Parenthoine, Nicolas Garcelon, Antoine Neuraz, 2017, J. Biomed. Informatics.

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

Juliette Nectoux, Nadia Bahi-Buisson, Jamel Chelly, 2009, European Journal of Human Genetics.

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

A. Munnich, N. Boddaert, N. Bahi-Buisson, 2015, neurogenetics.

Effect of desipramine on patients with breathing disorders in RETT syndrome

O. Blin, L. Vallée, P. Franco, 2017, Annals of clinical and translational neurology.

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.

S. Saunier, Nicolas Goudin, N. Bahi-Buisson, 2022, Journal of visualized experiments : JoVE.

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

N. Bahi-Buisson, P. Léger, N. Boddaert, 2008, Revue neurologique.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

A cognitive and affective pattern in posterior fossa strokes in children: a case series

N. Boddaert, F. Brunelle, O. Dulac, 2010, Developmental medicine and child neurology.

A novel recurrent LIS1 splice site mutation in classic lissencephaly

N. Boddaert, J. Chelly, J. Steffann, 2017, American journal of medical genetics. Part A.

corr igenda Corrigendum : Mutations in TUBG 1 , DYNC 1 H 1 , KIF 5 C and KIF 2 A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013 .

Myoclonus–dystonia

A. Durr, A. Dürr, A. Brice, 2008, Neurology.

Mutations in MAST1 cause mega-corpus-callosum with

Martin W. Breuss, A. Pagnamenta, D. Keays, 2019 .