Mondher Chouchane

Hôpital d'Enfants

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Frédéric Huet

Centre Hospitalier Universitaire Dijon Bourgogne

Juliette Ropars

Centre Hospitalier Régional Universitaire de Brest

B. Chabrol

Hôpital de la Timone

Laurence Faivre

Université de Bourgogne

Isabelle Desguerre

Assistance Publique – Hôpitaux de Paris

Christine Barnérias

Assistance Publique – Hôpitaux de Paris

Vincent Laugel

Inserm

Valérie Trommsdorff

Centre Hospitalier Universitaire de La Réunion

Ulrike Walther‐Louvier

Hôpital Gui de Chauliac

Frédérique Audic

Hôpital de la Timone

Cooperative Institutions

Inserm

254

Assistance Publique – Hôpitaux de Paris

139

Sorbonne Université

119

Centre National de la Recherche Scientifique

119

Centre Hospitalier Universitaire Dijon Bourgogne

Hôpital d'Enfants

Université Paris Cité

Université de Bourgogne

Hospices Civils de Lyon

Maison des Sciences de l’Homme de Dijon

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Nusinersen in patients older than 7 months with spinal muscular atrophy type 1

Neurology (2018)

Karolina Aragon‐Gawinska Andreea Seferian Aurore Daron E. Gargaun Carole Vuillerot

To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1).Patients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32).We treated 33 children ranging in age from 8.3 to 113.1 months between December 2016 and May 2017. All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene.Our results are in line with the phase 3 study for nusinersen in patients with SMA1 treated before 7 months of age and indicate that patients benefit from nusinersen even at a later stage of the disease.NCT02865109.This study provides Class IV evidence that for patients with SMA1 who are older than 7 months, nusinersen is beneficial.

Neuromuscular disease

10.1212/wnl.0000000000006281

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Citations (109)

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

Epilepsia (2015)

Chloé Di Meglio Gaétan Lesca Nathalie Villeneuve Caroline Lacoste Affef Abidi

Summary Objective Mutations in the syntaxin binding protein 1 gene ( STXBP 1 ) have been associated mostly with early onset epileptic encephalopathies ( EOEE s) and Ohtahara syndrome, with a mutation detection rate of approximately 10%, depending on the criteria of selection of patients. The aim of this study was to retrospectively describe clinical and electroencephalography ( EEG ) features associated with STXBP 1 ‐related epilepsies to orient molecular screening. Methods We screened STXBP 1 in a cohort of 284 patients with epilepsy associated with a developmental delay/intellectual disability and brain magnetic resonance imaging ( MRI ) without any obvious structural abnormality. We reported on patients with a mutation and a microdeletion involving STXBP 1 found using array comparative genomic hybridization ( CGH ). Results We found a mutation of STXBP 1 in 22 patients and included 2 additional patients with a deletion including STXBP 1 . In 22 of them, epilepsy onset was before 3 months of age. EEG at onset was abnormal in all patients, suppression‐burst and multifocal abnormalities being the most common patterns. The rate of patients carrying a mutation ranged from 25% in Ohtahara syndrome to <5% in patients with an epilepsy beginning after 3 months of age. Epilepsy improved over time for most patients, with an evolution to West syndrome in half. Patients had moderate to severe developmental delay with normal head growth. Cerebellar syndrome with ataxic gait and/or tremor was present in 60%. Significance Our data confirm that STXBP 1 mutations are associated with neonatal‐infantile epileptic encephalopathies. The initial key features highlighted in the cohort of early epileptic patients are motor seizures either focal or generalized, abnormal initial interictal EEG , and normal head growth. In addition, we constantly found an ongoing moderate to severe developmental delay with normal head growth. Patients often had ongoing ataxic gait with trembling gestures. Altogether these features should help the clinician to consider STXBP 1 molecular screening.

West Syndrome

Abnormality

10.1111/epi.13214

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Citations (47)

Message from the Editor

European Neurology (2015)

Peter J. Koehler Caroline Jagella Zubaida Al-Suwaidi Muna Almaslmani Abdul Latif Al Khal

10.1159/000369190

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Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey)

Archives de Pédiatrie (2025)

Sarah Barrière Véronique Manel Christine Barnérias Karim Wahbi Frédérique Audic

Mexiletine

Myotonia congenita

10.1016/j.arcped.2024.10.009

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The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

Molecular Genetics and Metabolism Reports (2021)

Julian Delanne Ange‐Line Bruel Frédéric Huet Sébastien Moutton Sophie Nambot

Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspecific developmental disorders (DD). IMDs were diagnosed in 12% of individuals with causative diagnosis (177/547). There are clear benefits of using ES in DD to diagnose IMD, particularly in cases where biochemical studies are unavailable. Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.

Exome

10.1016/j.ymgmr.2021.100812

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A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome

European Journal of Medical Genetics (2006)

Marina Colombani Mondher Chouchane G. Pitelet Laure Morales Patrick Callier

Polymicrogyria

Polydactyly

Ventriculomegaly

Macrocephaly

Porencephaly

Megalencephaly

10.1016/j.ejmg.2006.05.001

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Citations (26)

SMA THERAPIES I

Neuromuscular Disorders (2018)

K. Aragon-Gawinska A. Seferian Laura Vanden Brande A. Daron A. Ulinici

10.1016/j.nmd.2018.06.196

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Citations (1)

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array‐CGH

American Journal of Medical Genetics Part A (2009)

Alice Masurel‐Paulet Patrick Callier Christel Thauvin‐Robinet Mondher Chouchane N. Méjean

Abstract We describe a 46‐month‐old child presenting with developmental delay, mild facial dysmorphism, micropenis, strabismus and striking multiple cysts of the corpus callosum who was found to have a de novo interstitial 3.1 Mb 15q24.1q24.2 microdeletion using a 244 K microarray‐based comparative genomic hybridization (array‐CGH). The cystic lesions were located in the anterior half of the corpus callosum and did not take up gadolinium contrast. There was no other brain abnormality, and the gyral pattern and myelination were normal. There was no history of infectious disease or vascular injury and a metabolic disease was ruled out. Such cystic lesions of the corpus callosum are exceptional in the pediatric literature. Although these brain abnormalities have not been described in other reports with 15q24 microdeletion, we believe that they might be related to the cytogenetic abnormality since the work‐up for other causes was negative. We suggest that a chromosomal rearrangement should be ruled out when such corpus callosum lesions are identified. © 2009 Wiley‐Liss, Inc.

10.1002/ajmg.a.32904

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Citations (27)

Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood

European Neurology (2014)

M Giroud Benoît Daubail N. Khayat Mondher Chouchane Eric Berger

This study aimed to evaluate the clinical symptoms of Angelman syndrome (AS) in adults and to identify the neurological pathways affected in this disease. AS is a neurogenetic disorder resulting due to the deletion or inactivation of the ubiquitin-protein-ligase E3A gene on maternal chromosome 15.A retrospective analysis of data from six adults patients with clinical, electroencephalographic and genetic confirmation of AS was performed. Movement disorders of the hands and mouth, laughing spells, severe expressive speech disorders, a happy nature, hyposomnia and anxiety are the major neurological characteristics of AS in adulthood. Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood. Epilepsy, one of the most frequent symptoms in childhood and in adulthood, is characterised by specific electroencephalographic patterns. Key Messages: These clinical characteristics are important to improve the clinical awareness and genetic diagnosis of AS. Clinicians must be better informed concerning the adult phenotype as it is not well described in the literature. We stress the importance of AS as one of the main causes of intractable epilepsy. The authors suggest frontal and cerebellar dysfunction. Further functional cerebral imaging studies are necessary.

Angelman Syndrome

Cerebellar ataxia

10.1159/000369454

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Citations (14)

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Nature Genetics (2014)

Gillian Rice Yoandris del Toro Duany Emma M. Jenkinson Gabriella Forte Beverley Anderson

MDA5

Interferon type I

Wild type

10.1038/ng.2933

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Citations (543)