Publications
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.,
, Human molecular genetics, 2015 Jun 29, (2015)
Abstract
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.,
, Human molecular genetics, 1998 Aug, Volume 7, Issue 8, p.1327-32, (1998)
Abstract
Early clinical and EEG features of infantile spasms in Down syndrome.,
, Epilepsia, 1996 Oct, Volume 37, Issue 10, p.977-82, (1996)
Abstract
Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis.,
, PloS one, 2015, Volume 10, Issue 7, p.e0131635, (2015)
Abstract
Brainstem auditory evoked potentials in alternating hemiplegia: ictal vs interictal assessment in one case.,
, Clinical EEG (electroencephalography), 1990 Jan, Volume 21, Issue 1, p.51-4, (1990)
Abstract
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.,
, Human molecular genetics, 1997 Apr, Volume 6, Issue 4, p.555-62, (1997)
Abstract
[Reducing and stopping treatment].,
, La Revue du praticien, 1990 Feb 1, Volume 40, Issue 4, p.323-7, (1990)
Abstract
Early and effective treatment of KCNQ2 encephalopathy.,
, Epilepsia, 2015 May, Volume 56, Issue 5, p.685-91, (2015)
Abstract
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.,
, Journal of medical genetics, 2015 Jun, Volume 52, Issue 6, p.405-12, (2015)
Abstract
Angelman syndrome: correlations between epilepsy phenotypes and genotypes.,
, Annals of neurology, 1998 Apr, Volume 43, Issue 4, p.485-93, (1998)
Abstract
Identification and characterization of three calmodulin binding sites of the skeletal muscle ryanodine receptor.,
, Biochemistry, 1994 Aug 9, Volume 33, Issue 31, p.9078-84, (1994)
Abstract
Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study.,
, Lancet (London, England), 1993 Mar 6, Volume 341, Issue 8845, p.608-12, (1993)
Abstract
The epileptic spectrum in the congenital bilateral perisylvian syndrome. CBPS Multicenter Collaborative Study.,
, Neurology, 1994 Mar, Volume 44, Issue 3 Pt 1, p.379-85, (1994)
Abstract
Infantile spasms: an early epileptic manifestation in some patients with the congenital bilateral perisylvian syndrome.,
, Journal of child neurology, 1994 Oct, Volume 9, Issue 4, p.420-3, (1994)
Abstract
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation.,
, Epilepsy & behavior : E&B, 2015 Jul 16, (2015)
Abstract
Cortical reflex myoclonus in Rett syndrome.,
, Annals of neurology, 1998 Apr, Volume 43, Issue 4, p.472-9, (1998)
Abstract
Antiepileptic drug-induced worsening of seizures in children.,
, Epilepsia, 1998, Volume 39 Suppl 3, p.S2-10, (1998)
Abstract
Cortical myoclonus in Angelman syndrome.,
, Annals of neurology, 1996 Jul, Volume 40, Issue 1, p.39-48, (1996)
Abstract
Epilepsy and focal gyral anomalies detected by MRI: electroclinico-morphological correlations and follow-up.,
, Developmental medicine and child neurology, 1992 Aug, Volume 34, Issue 8, p.706-18, (1992)
Abstract
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy.,
, Annals of neurology, 1997 Jan, Volume 41, Issue 1, p.65-73, (1997)
Abstract