Publications
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Adolescent onset of idiopathic photosensitive occipital epilepsy after remission of benign rolandic epilepsy.,
, Epilepsia, 1997 Jul, Volume 38, Issue 7, p.777-81, (1997)
Abstract
Angelman syndrome: correlations between epilepsy phenotypes and genotypes.,
, Annals of neurology, 1998 Apr, Volume 43, Issue 4, p.485-93, (1998)
Abstract
Band heterotopia: correlation of outcome with magnetic resonance imaging parameters.,
, Annals of neurology, 1994 Oct, Volume 36, Issue 4, p.609-17, (1994)
Abstract
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.,
, Neurology, 1997 Oct, Volume 49, Issue 4, p.1042-7, (1997)
Abstract
Cortical reflex myoclonus in Rett syndrome.,
, Annals of neurology, 1998 Apr, Volume 43, Issue 4, p.472-9, (1998)
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Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.,
, PloS one, 2015, Volume 10, Issue 7, p.e0130883, (2015)
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Early and effective treatment of KCNQ2 encephalopathy.,
, Epilepsia, 2015 May, Volume 56, Issue 5, p.685-91, (2015)
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-onset benign occipital seizure susceptibility syndrome.,
, Epilepsia, 1997 Mar, Volume 38, Issue 3, p.285-93, (1997)
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
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
Induction of partial seizures by visual stimulation. Clinical and electroencephalographic features and evoked potential studies.,
, Advances in neurology, 1998, Volume 75, p.159-78, (1998)
The influence of dosage, age, and comedication on steady state plasma lamotrigine concentrations in epileptic children: a prospective study with preliminary assessment of correlations with clinical response.,
, Therapeutic drug monitoring, 1997 Jun, Volume 19, Issue 3, p.252-60, (1997)
Abstract
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.,
, Human molecular genetics, 2015 Jun 29, (2015)
Abstract
Periventricular nodular heterotopia in Smith-Magenis syndrome.,
, American journal of medical genetics. Part A, 2014 Dec, Volume 164A, Issue 12, p.3142-7, (2014)
Abstract
Reversible pseudoatrophy of the brain and mental deterioration associated with valproate treatment.,
, Epilepsia, 1998 Jan, Volume 39, Issue 1, p.27-32, (1998)
Abstract
X-linked malformations of neuronal migration.,
, Neurology, 1996 Aug, Volume 47, Issue 2, p.331-9, (1996)
Abstract
[The evolution of epilepsy in the most common genetic forms with mental retardation (Down's syndrome and the fragile X syndrome)].,
, La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1993 May-Jun, Volume 15 Suppl 1, p.19-22, (1993)
Abstract