|1|Unilateral keratoconus presenting with acute hydrops in a patient with mental retardation, epilepsy, and bronchial asthma. (22993471)
Sabyasachi B.... Lila B.
|2|Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy. (22269148)
Takeshita E.... Goto Y.
|3|A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation. (22555332)
Vecchio D.... Roccella M.
|4|Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR). (22932693)
Antelmi E.... Tinuper P.
|5|Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epilepsy, detected by BAC genome array-CGH. (23249659)
Cabras V.... Nucaro A.
|6|Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy? (21371014)
Nucaro A.... Pruna D.
|7|Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. (21519002)
Dibbens L.M.... Scheffer I.E.
|8|Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy. (21763164)
Grosso S.... Verrotti A.
|9|Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy. (20808325)
Klitten L.L.... Tommerup N.
|10|De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features. (21626670)
Lesca G.... Sanlaville D.
|11|Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. (20736978)
Brunetti-Pierri N.... Stankiewicz P.
|12|Autism in Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation. (21620773)
Li B.M.... Liao W.P.
|13|Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. (21416597)
Conti V.... Guerrini R.
|14|Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. (22056632)
Hochstenbach R.... Ophoff R.A.
|15|ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. (21204215)
CossAce M.... Mandel J.L.
|16|Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency. (22190902)
Joost K.... Ounap K.
|17|A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p. (21480884)
Blair M.A.... Hedera P.
|18|Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. (19752159)
Hynes K.... Scheffer I.E.
|19|Anterior corpus callosotomy in patients with intractable generalized epilepsy and mental retardation. (20530978)
Liang S.... Sun Y.
|20|Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. (20830798)
Jamal S.M.... Milunsky J.M.
|21|MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy. (20730324)
Mattos A.M.... Riesgo R.d.o.s. .S.
|22|Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report. (20512637)
Suhanya J.... Ponniah I.
|23|Neuronal hyperexcitability and seizures are associated with changes in glial-neuronal interactions in the hippocampus of a mouse model of epilepsy with mental retardation. (21044073)
MelA... Mennini T.
|24|Mutations in the small GTPase gene RAB39B are responsible for X- linked mental retardation associated with autism, epilepsy, and macrocephaly. (20159109)
Giannandrea M.... D'Adamo P.
|25|Duplication of the VHL and IRAK2 genes in a patient with mental retardation/multiple congenital anomalies, epilepsy and ectomorphic habitus. (20420027)
Chabchoub E.... Fryns J.P.
|26|Anterior temporal lobectomy combined with anterior corpus callosotomy in patients with temporal lobe epilepsy and mental retardation. (20554457)
Liang S.... Sun Y.
|27|A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. (18615734)
Kalscheuer V.M.... Harvey R.J.
|28|Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. (19874387)
Auvin S.... Andrieux J.
|29|Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. (19605412)
Kitamura K.... Goto Y.
|30|Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. (18413482)
Gurnett C.A.... Bowcock A.
|31|Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation. (18925676)
Van Steensel M.A.... Vles J.H.
|32|A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. (15746149)
Ramser J.... Nguyen G.
|33|Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. (15376319)
Colombo E.... Broccoli V.
|34|The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. (15148587)
Bhalla K.... Callen D.F.
|35|Familial hyperinsulinaemia associated with epilepsy and mental retardation--a syndrome of familial insulin resistance. (15154952)
Idris I.... Page S.R.
|36|Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. (12838518)
Guerrini R.... Das S.
|37|X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. (12689693)
Hirose S.... Mitsudome A.
|38|Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. (11782983)
Hedera P.... Fink J.K.
|39|Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood? (11745991)
Nokelainen P.... Flint J.
|40|A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. (10632111)
Guerrini R.... Gibbons R.J.
|41|Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. (10922387)
Gohlke B.C.... Haverkamp F.
|42|A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation. (11233683)
Caksen H.... KurtoA9lu S.
|43|Positional cloning and characterization of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation. (10854099)
Ranta S.... Lehesjoki A.-E.
|44|A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (9840354)
Khatami R.... KAPlmel H.W.
|45|Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. (9288105)
Ryan S.G.... Smietana S.
|46|Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p. (8743986)
Ranta S.... Gilliam T.C.
|47|Gingival fibromatosis, mental retardation, epilepsy and hypertrichosis. (2113016)
|48|Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis. (2806737)
Anavi Y.... Kiviti S.
|49|Bilateral central macrogyria: epilepsy, pseudobulbar palsy, and mental retardation--a recognizable neuronal migration disorder. (2500888)
Kuzniecky R.... Leppik I.
|50|Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature. (6580169)
MA1nke M.... Tolksdorf M.