P. Cacciagli

发表

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

S. Haas, V. Kalscheuer, H. Man, 2013, Human molecular genetics.

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

E. Buhler, L. Villard, B. ben Zeev, 2020, European Journal of Human Genetics.

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

N. Girard, L. Villard, M. Milh, 2015, European Journal of Human Genetics.

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

A. Kaminska, L. Villard, M. Milh, 2011, Epilepsia.

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

M. Lathrop, N. Girard, J. Desvignes, 2013, American journal of human genetics.

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

D. Ledbetter, M. Lathrop, D. Zélénika, 2013, European Journal of Human Genetics.

Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

A. Mégarbané, S. Julia, N. Philip, 2014, American journal of medical genetics. Part A.

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst

E. Liebau, L. Villard, M. Milh, 2018, Human mutation.

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

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

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

N. Philip, L. Villard, A. Moncla, 2007, Human mutation.

Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures

S. Julia, A. Afenjar, O. Dulac, 2019, Epilepsia.

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

E. Chouery, A. Mégarbané, L. Villard, 2015, Molecular Cytogenetics.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

TCF4 Deletions in Pitt‐Hopkins Syndrome

N. Philip, J. Rankin, F. Giuliano, 2008, Human mutation.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.

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.

Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy

F. Benfenati, F. Zara, R. Nabbout, 2013, Human mutation.

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

L. Villard, A. Moncla, B. Chabrol, 2010, European Journal of Human Genetics.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

omozygous TBC 1 D 24 mutation in two iblings with familial infantile myoclonic pilepsy ( FIME ) and moderate intellectual isability

P. Cacciagli, nne-Lise Poulata, Dorothée Villea, 2015 .

The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

N. Girard, L. Villard, M. Milh, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

N. Philip, N. Girard, L. Villard, 2009, Journal of Medical Genetics.

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

L. Villard, B. ben Zeev, P. Cacciagli, 2020, European Journal of Human Genetics.

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Laurent Villard, E. Chouery, A. Mégarbané, 2015, Molecular Cytogenetics.

TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype

L. Villard, F. Molinari, S. Gorokhova, 2023, Journal of Medical Genetics.

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

A. Mégarbané, L. Villard, P. Cacciagli, 2009, European journal of medical genetics.

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

L. Villard, M. Milh, N. Villeneuve, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Severe neonatal seizures: From molecular diagnosis to precision therapy?

L. Villard, M. Milh, N. Villeneuve, 2016, Revue neurologique.

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

G. Daquin, L. Villard, F. Molinari, 2023, Epilepsia.

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

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

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

M. Lathrop, N. Girard, J. Desvignes, 2013, American journal of human genetics.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.