Publications
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Bilateral parasagittal parietooccipital polymicrogyria and epilepsy.,
, Annals of neurology, 1997 Jan, Volume 41, Issue 1, p.65-73, (1997)
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
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.,
, American journal of medical genetics. Part A, 2010 Dec 10, (2010)
Abstract
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
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
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.,
, Human molecular genetics, 2015 Jun 29, (2015)
Abstract
Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI.,
, Developmental medicine and child neurology, 1992 Aug, Volume 34, Issue 8, p.694-705, (1992)
Abstract
Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance.,
, Brain & development, 1998 Mar, Volume 20, Issue 2, p.116-8, (1998)
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