The endophenotype concept in psychiatry: etymology and strategic intentions

II Gottesman, TD Gould - American journal of psychiatry, 2003 - Am Psychiatric Assoc
Endophenotypes, measurable components unseen by the unaided eye along the pathway
between disease and distal genotype, have emerged as an important concept in the study of …

Causes of epilepsy: contributions of the Rochester epidemiology project

JF Annegers, WA Rocca, WA Hauser - Mayo Clinic Proceedings, 1996 - Elsevier
The contributions of the Rochester (Minnesota) Epidemiology Project and Mayo Clinic
studies in the evaluation of the causes of epilepsy are summarized. The development of the …

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

OK Steinlein, JC Mulley, P Propping, RH Wallace… - Nature …, 1995 - nature.com
Epilepsy affects at least 2% of the population at some time in their lives1. The epilepsies are
a heterogeneous group of disorders, many with an inherited component2. Although specific …

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

P Cossette, L Liu, K Brisebois, H Dong, A Lortie… - Nature …, 2002 - nature.com
Although many genes that predispose for epilepsy in humans have been determined, those
that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be …

Juvenile myoclonic epilepsy: a 5‐year prospective study

CP Panayiotopoulos, T Obeid, AR Tahan - Epilepsia, 1994 - Wiley Online Library
We made a long term prospective study of 66 patients with juvenile myoclonic epilepsy
(JME). Prevalence was 10.2% among 672 patients with epilepsies. Sex distribution was …

Epilepsies in twins: genetics of the major epilepsy syndromes

SF Berkovic, RA Howell, DA Hay… - Annals of …, 1998 - Wiley Online Library
We studied twins to examine the genetics of epilepsy syndromes. We ascertained 358 twin
pairs in whom one or both reported seizures. After evaluation, 253 of 358 (71%) had seizure …

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

LA Pennacchio, AE Lehesjoki, NE Stone, VL Willour… - Science, 1996 - science.org
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal
recessive inherited form of epilepsy, previously linked to human chromosome 21q22. 3. The …

Psychiatric genetics: search for phenotypes

M Leboyer, M Leboyer, F Bellivier, R Jouvent… - Trends in …, 1998 - cell.com
Failure to obtain convincing results in psychiatric genetics can partly be attributed to the fact
that progress in molecular biology and genetic epidemiology has not been followed by an …

Localization of a gene for partial epilepsy to chromosome 10q

R Ottman, N Risch, WA Hauser, TA Pedley, JH Lee… - Nature …, 1995 - nature.com
There is strong evidence for a genetic contribution to epilepsy, but it is commonly assumed
that this genetic contribution is limited to 'generalized'epilepsies, and that most forms of …

Subtyping schizophrenia: implications for genetic research

A Jablensky - Molecular psychiatry, 2006 - nature.com
Phenotypic variability and likely extensive genetic heterogeneity have been confounding the
search for the causes of schizophrenia since the inception of the diagnostic category. The …