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Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

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The family of Tre2-Bub2-Cdc16 (TBC)-domain containing GTPase activating proteins (RABGAPs) is not only known as key regulatorof RAB GTPase activity but also has GAP-independent functions. Rab GTPases are implicated in membrane trafficking pathways, such as vesicular trafficking. We report biallelic

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.

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Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) is a rare disease caused by mutations in the X chromosomal PIGA gene. Clinically it is characterized by early-onset epilepsy, hypotonia, dysmorphic features, and variable congenital anomalies. PIGA codes for the

SYNDROME OF GINGIVAL HYPERPLASIA, HIRSUTISM, AND CONVULSIONS; DILANTIN INTOXICATION WITHOUT DILANTIN.

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[Contribution to the question of hypertrophic gingivitis caused by hydantoin therapy of cerebral seizures in childhood and youth].

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Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition?

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Two sisters born to consanguineous Lebanese parents had mental retardation and epilepsy, brachymetacarpalia, hirsutism, bulbous soft nose, thick floppy ears with abnormal configuration and gingival hypertrophy. One girl presented additionally with tetralogy of Fallot and the other with congenital

Salivary and plasma IgA of seizure subjects receiving phenytoin.

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Immunoglobulin A, phenytoin, and protein were determined in plasma, unstimulated and stimulated whole saliva and stimulated and unstimulated parotid saliva from seizure subjects, aged 18 or more, who had ingested phenytoin for 1 year or more from controls. Patient subgroups with low plasma IgA and

Seizure disorders: update of medical and dental considerations.

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Seizure disorders and epilepsy represent neurologic conditions that commonly are seen among patients requiring dental treatment. When dentists possess a working knowledge of seizures, in addition to an understanding of updated therapies for seizure management and oral complications associated with

Phenobarbital-induced gingival overgrowth? Report of two cases and complications in management.

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Gingival overgrowth is a known side effect of several seizure, immunosuppressant and calcium channel-blocker medications. Gingival overgrowth is not a reported side-effect of phenobarbital. This case report describes two patients with marked gingival overgrowth who had been medicated with

Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.

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OBJECTIVE Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus (GEFS(+)) and their affected and some unaffected family members, coming from a restricted geographic area, was performed. METHODS Eight GEFS(+) families

The administration of folic acid to institutionalized epileptic adults with phenytoin-induced gingival hyperplasia. A double-blind, randomized, placebo-controlled, parallel study.

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Twenty severely retarded institutionalized epileptic adults with phenytoin-induced gingival hyperplasia were divided into two groups and received a daily 3 mg capsule of either folic acid or lactose for 16 weeks in a randomized, double-blind, parallel study. Serum folate and phenytoin levels were

Folate treatment of diphenylhydantoin-induced gingival hyperplasia.

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It has recently been reported that folic acid supplementation reduced DPH-induced gingival hyperplasia in cat and in a pilot study also in man. The present study was performed to further evaluate this therapy in man. Twenty-three children with DPH-treatment for more than 1 yr, and eight children

Phenytoin and cyclosporine A specifically regulate macrophage phenotype and expression of platelet-derived growth factor and interleukin-1 in vitro and in vivo: possible molecular mechanism of drug-induced gingival hyperplasia.

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Phenytoin (pht) is an anticonvulsant drug commonly used for the prevention of seizures. A common side effect of PHT therapy is gingival hyperplasia, occasionally so severe that it requires surgical intervention. Cyclosporine A (CSA) is a drug widely used for the control of rejection phenomena

Ethotoin in seizures of childhood and adolescence.

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Ethotoin is an anticonvulsant that was considered minimally effective when introduced, but due to its apparent lack of side effects, there has been renewed interest in the drug for use in generalized and psychomotor seizures. We have characterized the pharmacokinetics of ethotoin in children and

Phenytoin-induced gingival overgrowth.

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Gingival overgrowth is a common adverse effect of therapy with Phenytoin, having important medical and cosmetic implications. Poor periodontal hygiene is an important risk factor for severity of Phenytoin-induced gingival overgrowth (PIGO), which is a time-dependent process. There is complex

Phenytoin, folic acid and gingival enlargement: Breaking myths.

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BACKGROUND Epilepsy is described as a chronic neurological disorder characterized by recurrent seizures of cerebral origin, presenting with episodes of sensory, motor or autonomic phenomenon with or, without loss of consciousness. A recent meta-analysis of published and unpublished studies puts an

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Herbal & Natural Medicine

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