- A locus for simple pure febrile seizures maps to chromosome 6q22-q24
INSERM U289, Service de Neuro Pédiatrie, Hopital Saint Vincent de Paul, Paris, France
Brain 125:2668-80. 2002
..The locus mapping to 6q22-q24 seems to be the first identified locus responsible for pure simple FS, the most frequent form of FS. Studies are ongoing to identify the gene...
- Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
Department of Pediatric Neurology, Centre de Référence Épilepsies Rares, Hôpital Necker Enfants Malades APHP, Paris, France
Orphanet J Rare Dis 8:176. 2013
..Our objective was to prospectively analyze the neuropsychological features in a large cohort of DS patients and its relationships with epilepsy and SCN1A mutation...
- FIRES and IHHE: Delineation of the syndromes
Department of Pediatric Neurology, Referral Center for Rare Epilepsies, Necker Infants Maladies Hospital, APHP, 149 rue de Sevres, Paris, France
Epilepsia 54:54-6. 2013
- Genetics of idiopathic epilepsies
Department of Pediatric Neurology, Hôpital Necker Enfants Malades Centre de référence épilepsies rares INSERM U663, Paris, France Electronic address
Handb Clin Neurol 111:567-78. 2013
..Recognition of specific genetic epilepsy syndromes enables optimal treatment and prognostic and genetic counseling...
- Epilepsy. Genetics of early-onset epilepsy with encephalopathy
Centre de Référence Épilepsies Rares, Department of Neuropediatrics, INSERM U663, Universite Paris Descartes, Hopital Necker, 149 rue de Sevres, Paris, France
Nat Rev Neurol 8:129-30. 2012
..New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?..
- Stiripentol: an example of antiepileptic drug development in childhood epilepsies
Department of Pediatric Neurology, Centre de Reference des Epilepsies Rares, INSERM U663, Hopital Necker Enfants Malades, APHP, Paris Descartes University, Paris, France
Eur J Paediatr Neurol 16:S13-7. 2012
..These analyses confirmed that the effects of STP cannot result from a simple pharmacokinetic interaction. We propose that the success of STP should serve as a model for AED development in rare pediatric epileptic syndromes...
- Autoimmune and inflammatory epilepsies
Department of Pediatric Neurology, Reference Center for Rare Epilepsies, INSERM U663, Necker Enfants Malades Hospital, Paris, France
Epilepsia 53:58-62. 2012
..We emphasize the electroclinical features that would help to diagnose these conditions, allowing early immunomodulating therapy. Finally, we raise some questions that remain unclear regarding diagnosis, mechanisms, and future therapies...
- An unexpected EEG course in Dravet syndrome
APHP, Necker Enfants Malades Hospital, Department of Neuropediatrics, Centre de Référence Épilepsies Rares, Paris, France
Epilepsy Res 81:90-5. 2008
- Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)
Department of Neuropediatrics, Centre de Référence Épilepsies Rares, Hopital Necker Enfants Malades, Paris, France
Epilepsia 51:2033-7. 2010
..SE may last more than 1 month, and this condition may evolve into pharmacoresistant epilepsy associated with severe cognitive impairment. We aimed to report the effect of ketogenic diet (KD) in this condition...
- Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study
Department of Neuropediatrics, National Referral Center for Rare Epilepsies, Necker Enfants Malades Hospital, 149 rue de Sevres, Paris, France
Epilepsia 52:e54-7. 2011
..This effect was reported in all responders and in a few nonresponders. KD might have a double effect, on seizure control and on hyperactivity and behavior disturbances in patients with DS...
- Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
Genethon III, Evry, France
Neurology 60:1961-7. 2003
..The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI...
- New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p
AP HP, Necker Enfants Malades Hospital, Neuropediatrics Department, Paris, France
Neurology 68:1374-81. 2007
..To report a clinical and genetic study of a large family with febrile seizures (FS) and childhood absence epilepsy (CAE)...
- Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy
Département de Neuropédiatrie, Hopital Saint Vincent de Paul, AP HP, 82 avenue Denfert Rochereau, 75014 Paris, France
Epilepsy Res 56:127-33. 2003
..Although MAE and SMEI share the same types of seizures, only SMEI patients are sensitive to fever. This is probably its main link to GEFS+. A different family of genes is likely to account for MAE...
- Epileptic encephalopathies: a brief overview
Department of Pediatrics, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
J Clin Neurophysiol 20:393-7. 2003
..Treatment differs for all of these syndromes. It is important to avoid potential drug-induced worsening, and valproate is preferred when a definitive diagnosis is not reached in children and especially infants...
- CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy
Service de Neurologie Pediatrique, Hopital Necker Enfants Malades, APHP, Universite Paris Descartes, Paris, France
Epilepsy Res 87:25-30. 2009
- The three stages of epilepsy in patients with CDKL5 mutations
Departement de Pediatrie, Service de Neurologie Pediatrique, Hopital Necker Enfants Malades, AP HP, Paris V, Paris, France
Epilepsia 49:1027-37. 2008
..So far, the electroclinical phenotype remains largely unknown and no clear genotype-phenotype correlations have been established...
- Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
INSERM U679 formerly U289, Groupe Hospitalier Pitie Salpetriere, Paris, France
Hum Mutat 27:389. 2006
..The allele-specific PCR technique used in this study will be of use in detecting other such cases. These findings will have major consequences for the genetic counseling of asymptomatic parents with only one affected child...
- Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children
Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Hopital Necker Enfants Malades, APHP, Paris, France INSERM, U663, Paris, France University Paris Descartes, CEA, Gif sur Yvette, France
Dev Med Child Neurol 55:1150-8. 2013
..HHS may occur either in patients with previous brain pathology or without any identified cause, so-called 'idiopathic HHS'...
- Spectrum of epilepsy in terminal 1p36 deletion syndrome
Department of Pediatric Neurology, Hopital Necker Enfants Malades, AP HP, Universite Paris V, Paris, France, and INSERM, U663, Paris, France
Epilepsia 49:509-15. 2008
..Previous reports have summarized the seizures types occurring in 1p36 deletion syndrome. To better define the spectrum of epilepsy, we studied 91 patients (median age 7.8 years) with confirmed 1p36 deletion...
- Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
Département de génétique et cytogénétique, Hopital de la Pitie Salpetriere, Paris, France
Hum Mutat 32:E1959-75. 2011
..These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation...
- Fever, genes, and epilepsy
Hopital Pitie Salpetriere, Paris, France
Lancet Neurol 3:421-30. 2004
..The molecular defects identified in the genetic associations of FS and epileptic seizures are very attractive models to aid our understanding of epileptogenesis and susceptibility to seizure-provoking factors, especially fever...
- Epilepsy in Menkes disease: analysis of clinical stages
Service de Maladies métaboliques et Neurologie Pédiatrique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
Epilepsia 47:380-6. 2006
..Epilepsy is one of the main features of Menkes disease (MD), although it is not described in depth. To determine the spectrum of epilepsy, we studied its main characteristics...
- Epileptic syndromes in infancy and childhood
Department of Neuropediatrics, Centre de Référence Épilepsies Rares, Hopital Necker Enfants Malades, APHP, Necker Enfants Malades, France
Curr Opin Neurol 21:161-6. 2008
..The aim of this article is to review new epilepsy syndromes, acquire a new understanding of older ones and emphasize the impact of this concept on basic research regarding aetiology and treatment...
- Motor neuropathy contributes to crouching in patients with Dravet syndrome
From the Departments of Pediatric Neurology C G, N C, C B, I D, M H, C C, R N and Pediatric Neurophysiology C G, N C, S Q R, and Reference Center for Rare Epilepsies N C, C C, O D, R N, Necker Enfants Malades Hospital, APHP, Paris INSERM U1129 Infantile Epilepsies and Brain Plasticity N C, C C, O D, R N, Paris Paris Descartes N C, C C, O D, R N, Sorbonne Paris Cité University CEA N C, C C, O D, R N, Gif sur Yvette Department of Pediatric Neurology S Q R, Raymond Poincare Hospital, APHP, Garches and Paris Descartes University C G, I D, Pusan National University
Neurology 87:277-81. 2016
..Since SCN1A is expressed in the motor neuron initial segment, we explored whether motor neuron dysfunction could contribute to gait disturbance and orthopedic misalignment in patients with Dravet syndrome due to SCN1A mutations...
- Monogenic idiopathic epilepsies
Unité d épileptologie, Assistace Publique Hôpitaux, and INSERM U 289, Hopital de la Pitie Salpetriere, Paris, France
Lancet Neurol 3:209-18. 2004
..In this article, we review the clinical and genetic data on most of the idiopathic human epilepsies and epileptic contexts in which the association of epilepsy and febrile convulsions is genetically determined...
- Early seizures: causal events or predisposition to adult epilepsy?
Department of Neuropaediatrics, APHP, Centre de Référence Épilepsies Rares, Necker Enfants Malades Hospital, Paris, France
Lancet Neurol 6:643-51. 2007
..A developmental approach to seizure disorders will aid understanding of epilepsy in adults and improve the design of antiepileptic agents for children and adults...
- Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study
Paola De Liso
Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 rue de Sevres, 75015 Paris, France Department of Pediatrics and Child Neuropsychiatry, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy Electronic address
Epilepsy Res 125:42-6. 2016
..The aim of this study was to assess outcome and seizure response to treatment with stiripentol (STP) associated to valproate (VPA) and clobazam (CLB), which we have used in our center since the 1990s, in patients with Dravet syndrome (DS)...
- Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations
Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Paris Descartes University, Necker Enfants Malades Hospital, Paris, France INSERM U1129, Paris, France
Epilepsy Behav 60:75-80. 2016
..We aimed to describe the phenotype of ASD in this series and to understand whether ASD is strictly linked to intellectual disability (ID) or is present as a comorbidity...
- Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism
Inserm U1129, Paris, France CEA, Gif sur Yvette, France Paris Descartes University, Paris, France
Dev Med Child Neurol 57:194-9. 2015
..The aim of the study was to characterize seizures and epilepsy related to hypoglycaemia...
- Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France Inserm U663, University Paris Descartes, PRES Sorbonne Paris Cité, Paris F 75005 CEA, Neurospin, 91190 Gif Yvette, France
Eur J Med Genet 57:15-20. 2014
..The course of the epilepsy was relatively benign. These clinical and neuroradiological features could orient the clinician in selecting patients' candidate to genetic testing for STXBP1 gene. ..
- Acute encephalopathy with inflammation-mediated status epilepticus
Neuropaediatrics Department, Necker Hospital, APHP, Paris, INSERM U663, Paris, and Faculty of Medicine, Descartes University, Paris, France
Lancet Neurol 10:99-108. 2011
..In addition to preliminary but encouraging clinical observations, there are theoretical reasons to consider the ketogenic diet as an early means to control both seizures and inflammation...
- Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, 24 rue du Faubourg St Jacques, Paris, France
Hum Mol Genet 19:4462-73. 2010
- The management of infantile spasms
APHP, Paediatric Neurology, Hopital Necker, Paris, France
Arch Dis Child 93:462-3. 2008
- Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
Département de génétique et cytogénétique, AP HP, Fédération de Génétique, Hopital de la Salpetriere, Paris, France
PLoS Genet 5:e1000381. 2009
..This disorder mainly affects females. The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism...
- Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy
INSERM, U679 Neurologie et Thérapeutique Expérimentale, Paris, France
Hum Mutat 30:397-405. 2009
..They may instead represent susceptibility factors among other so far undetected genetic alterations in the respective families...
- Arterial Spin Labeling MRI: a step forward in non-invasive delineation of focal cortical dysplasia in children
APHP, Department of Pediatric Neurosurgery, Hospital Necker, Paris, France Université Paris Descartes, Sorbonne Paris Cité, Paris, France INSERM U1129, Pediatric Epilepsies and Brain Plasticity, Paris, France Electronic address
Epilepsy Res 108:1932-9. 2014
..Interictal ASL is a non-invasive method that may help to localize the epileptogenic zone showing hypo-perfusion in FCD. Whether this finding could be generalized to MRI-negative FCD needs to be further studied. ..
- Transition and transfer from pediatric to adult health care in epilepsy: a families' survey on Dravet syndrome
Department of Pediatrics, University Hospital of Rennes, 35000 Rennes, France Department of Neurophysiology, University Hospital of Rennes, 35000 Rennes, France Centre de référence Epilepsies rares, APHP, Department of Pediatric Neurology, Necker Hospital, 75015 Paris, France
Epilepsy Behav 29:161-5. 2013
..Child neurologists were considered as welcoming, available, and helpful. Their experience in the adult health-care system was similar to pediatric care. Almost all patients who experienced "transfer" reported no gap in this process. ..
- Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children
Service de Neurologie Pediatrique et Maladies Metaboliques, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France Service d explorations fonctionnelles, Laboratoire de Neurophysiologie Clinique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France INSERM U1016 CNRS8104 Université Paris Descartes, Faculte de Medecine, Paris, France Electronic address
Clin Neurophysiol 124:2354-61. 2013
..To describe initial and follow-up electroencephalographic (EEG) characteristics in anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis...
- A revisited strategy for antiepileptic drug development in children: designing an initial exploratory step
INSERM, U663, Service de Neurologie et Metabolisme, Hopital Necker, 149 rue de Sevres, 75015, Paris, France
CNS Drugs 27:185-95. 2013
- Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France
Epilepsy Observatory, Paris, France
Epilepsia 57:757-69. 2016
..To obtain perspective on epilepsy in patients referred to tertiary centers in France, and describe etiology, epilepsy syndromes, and identify factors of drug resistance and comorbidities...
- Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex
INSERM U1129 Infantile Epilepsies and Brain Plasticity, Paris, France
Epilepsia 57:648-59. 2016
..To describe the epileptic phenotype of Tsc1(+/-) mice pups in comparison with age-related seizures in human tuberous sclerosis complex (TSC)...
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy
1 INSERM UMR 975, institut du cerveau et de la moelle épinière, Hopital Pitie Salpetriere, Paris, France 2 CNRS 7225, Hopital Pitie Salpetriere, Paris, France 3 Université Pierre et Marie Curie Paris 6 UPMC, UMRS 975, Paris, France 4 Assistance Publique Hôpitaux de Paris AP HP, Hopital Pitie Salpetriere, Département de Génétique et de Cytogénétique, Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire, Paris, France 5
Nat Genet 46:640-5. 2014
..These findings provide clear evidence that de novo HCN1 point mutations cause a recognizable early-onset epileptic encephalopathy in humans...
- KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response
Adam L Numis
From the University of California A L N, J E S, M R C, San Francisco Central Hospital of Bolzano M A, Italy Kaiser Permanente of Northern California A J L University of Genoa P S, G Gaslini Institute, Italy and Paris Descartes University, Hôpital Necker Enfants Malades R N, Paris, France
Neurology 82:368-70. 2014
..We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies. ..
- Parental view of epilepsy in Rett Syndrome
Service de Neuropédiatrie et Maladies, Assistance Publique Hopitaux de Paris, Métaboliques Hôpital Necker Enfants Malades, Paris, France
Brain Dev 30:126-30. 2008
..Few instruments exist to measure the impact of epilepsy on the quality of life in Rett Syndrome (RS)...
- De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
Department of Pediatric Neurology, Centre de Référence Épilepsies Rares, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, France
Nat Genet 44:1255-9. 2012
..These results provide a focus for future diagnostic approaches and research for this devastating condition...
- Infant's engagement and emotion as predictors of autism or intellectual disability in West syndrome
Service de Psychiatrie de l Enfant, AP HP, Hopital Necker, 149 rue de Sevres, 75015, Paris, France
Eur Child Adolesc Psychiatry 23:143-9. 2014
..Further research is needed to assess the PréAut grid in other contexts (e.g. infants at high-risk for non-syndromic autism)...
- Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity
Institut National de la Sante et de la Recherche Medicale, U592, Institut de la Vision, Paris, France
Ann Neurol 65:98-107. 2009
..The objective of this study was to investigate the light dependence of the vigabatrin-elicited retinal toxicity and to screen for molecules preventing this secondary effect of vigabatrin...
- Evaluation of CACNA1H in European patients with childhood absence epilepsy
Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK
Epilepsy Res 69:177-81. 2006
..Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients...
- Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families
Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto G Gaslini, University of Genova, Genova, and Division of Neurology, Ospedale Pediatrico Bambino Gesu, Roma, Italy
Epilepsia 47:1029-34. 2006
..Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis...
- Exploration of the genetic architecture of idiopathic generalized epilepsies
Gene Mapping Center, Max Delbruck Center, Berlin, Germany
Epilepsia 47:1682-90. 2006
..The objective of the present study was to explore the genetic architecture of common IGE syndromes and to dissect out susceptibility loci predisposing to absence or myoclonic seizures...
- Linkage and association analysis of CACNG3 in childhood absence epilepsy
Kate V Everett
Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, UK
Eur J Hum Genet 15:463-72. 2007
..No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients...
- Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
General and Adolescent Paediatric Unit, Centre for Human Molecular Genetics, UCL Institute Child Health, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK
Epilepsy Res 75:145-53. 2007
..We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy...
- A novel locus for generalized epilepsy with febrile seizures plus in French families
INSERM, UMR679, Neurologie and Thérapeutique Expérimentale, UPMC Univ Paris 06, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
Arch Neurol 65:943-51. 2008
- Short-term nonhormonal and nonsteroid treatment in West syndrome
Department of Child Neuropsychiatry, C Poma Hospital, Mantova Department of Neurology, Bambino Gesu Children s Hospital, Rome
Epilepsia 44:1085-8. 2003
..The aim of this retrospective multiinstitutional study was to evaluate the early discontinuation of nonhormonal and nonsteroid treatment for WS...
- Genetics of epilepsy: epilepsy research foundation workshop report
Epilepsy Research Foundation, United Kingdom
Epileptic Disord 9:194-236. 2007
..Presentations and their matched discussions are produced here. There was optimism that further genetic research in epilepsy was not only feasible, but might lead to improvements in the lives of people with epilepsy...
- Can SCN1A mutations account for SUDEP?--Commentary on Hindocha et al
Epilepsia 49:367-8. 2008