All individuals with variants in gene KCNQ2

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

116 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00002647	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	F	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002648	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	F	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002649	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	F	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002650	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	-	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002651	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	F	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002652	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	M	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002653	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	-	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002654	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	F	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002655	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	-	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002656	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	F	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002657	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	-	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002658	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	M	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002659	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	F	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002660	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	F	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002661	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	M	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00002662	-	PubMed: Soldovieri 2014, Journal: Soldovieri 2014	-	F	-	-	-	-	-	-	-	BFNS1	-	1	1	Gaetan Lesca
00016321	-	-	-	F	-	Italy	-	-	0	-	-	BFNS1	Neonatal generalized tonic-clonic seizures not responsive to any therapy. Seizures ceased spontaneously at the 25th day of life.	1	1	Lab Zuffardi
00016322	-	-	-	M	no	Italy	-	-	0	-	-	EE	diagnosis: epileptic encephalopathy and pervasive developmental disorder	1	1	Lab Zuffardi
00035985	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035986	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035987	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035988	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035989	-	-	-	-	-	Germany	-	-	0	-	-	?	suspected benign familiar neonatal infantile epilepsy; other patient: suspected familiar benign newborn seizures	1	1	Andreas Laner
00035990	-	-	-	-	-	Germany	-	-	0	-	-	?	benign familal neonatal seizures	1	1	Andreas Laner
00035991	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035992	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035993	-	-	-	-	-	Germany	-	-	0	-	-	?	familial benign neonatal seizures	1	1	Andreas Laner
00035994	-	-	-	-	-	Germany	-	-	0	-	-	?	benign familal neonatal seizures	1	1	Andreas Laner
00035995	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035996	-	-	-	-	-	Germany	-	-	0	-	-	?	suspected benign familal neonatal seizures	1	1	Andreas Laner
00035997	-	-	-	-	-	Germany	-	-	0	-	-	?	atypical RETT-syndrome, therapy-resistent epilepsy since the first months of life, no development	1	1	Andreas Laner
00035998	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035999	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00036000	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00036001	-	-	-	-	-	Germany	-	-	0	-	-	?	benign newborn seizures	1	1	Andreas Laner
00036002	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00036003	-	-	-	-	-	Germany	-	-	0	-	-	?	neonatal seizures	1	1	Andreas Laner
00036004	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00036005	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00036006	-	-	-	-	-	Germany	-	-	0	-	-	?	status post seizures as a newborn and in infancy, son has also seizures as a newborn	1	1	Andreas Laner
00036007	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00036008	-	-	-	-	-	Germany	-	-	0	-	-	?	suspected benign familal neonatal seizures	1	1	Andreas Laner
00036009	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00036010	-	-	-	-	-	Germany	-	-	0	-	-	?	developmental delay, cerebral seizures, sucking weakness	1	1	Andreas Laner
00036011	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00036012	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00036013	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00050377	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	0	Decipher	-	?	infantile encephalopathy, generalized myoclonic seizures, seizures	1	1	Johan den Dunnen
00050397	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	0	Decipher	-	?	breathing dysregulation, intellectual disability, seizures, hypertelorism, low-set posteriorly rotated ears	1	1	Johan den Dunnen
00050551	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	0	Decipher	-	?	aplasia/hypoplasia of the corpus callosum, infantile encephalopathy, seizures	1	1	Johan den Dunnen
00050561	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	0	Decipher	-	?	global developmental delay, lower limb muscle weakness, upper limb spasticity, strabismus, congenital muscular torticollis, seizures, generalized seizures, dolichocephaly, narrow forehead, epicanthus, high-arched palate, abnormality of the hair	1	1	Johan den Dunnen
00050651	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected and affected2nd degree relatives	F	-	United Kingdom (Great Britain)	-	-	0	Decipher	-	?	global developmental delay, generalized seizures, recurrent hand flapping, deeply set eye, delayed speech and language development, aggressive behavior, pain insensitivity	1	1	Johan den Dunnen
00054788	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	10	NeuroMeGen
00054795	-	-	-	-	-	-	-	-	0	-	-	BFNS1	-	1	4	NeuroMeGen
00054821	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	1	NeuroMeGen
00054822	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	1	NeuroMeGen
00054823	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	1	NeuroMeGen
00054824	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	1	NeuroMeGen
00054825	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	1	NeuroMeGen
00054826	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	1	NeuroMeGen
00054827	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	1	NeuroMeGen
00054828	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	1	NeuroMeGen
00054829	-	-	-	-	-	-	-	-	0	-	-	EIEE7	-	1	1	NeuroMeGen
00054830	-	-	-	-	-	-	-	-	0	-	-	BFNS1	-	1	1	NeuroMeGen
00054831	-	-	-	-	-	-	-	-	0	-	-	BFNS1	-	1	1	NeuroMeGen
00054832	-	-	-	-	-	-	-	-	0	-	-	BFNS1	-	1	1	NeuroMeGen
00080837	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	0	-	-	EIEE7	Epileptic encephalopathy, early infantile, 7 (OMIM:613720)	1	1	Daniel Trujillano
00081048	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	0	-	-	BFNS1	Seizures, benign neonatal, 1 (OMIM:121200)	1	1	Daniel Trujillano
00111406	S_106	PubMed: Popp 2017, Journal: Popp 2017	-	M	no	-	-	-	0	-	-	EIEE7	Developmental delay, hypotonia, seizures during first year of life	1	1	Bernt Popp
00116805	S_101:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	0	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117004	S_544:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	0	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117056	S_63:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	0	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00176996	73214	-	-	F	no	Italy	-	-	0	-	-	EIEE	-	1	1	Anaïs Begemann
00177006	71693	-	-	M	no	Switzerland	-	-	0	-	-	EE	HP:0008936 HP:0002078 HP:0002066 HP:0002522 HP:0001761 HP:0000154 HP:0004533	1	1	Anaïs Begemann
00180190	29286531-Pat42	PubMed: Tumienė 2018	-	-	-	(Slovenia)	-	-	0	-	-	?	(Neonatal) seizures (HP:0001250), global developmental delay (HP:0001263), intellectual disability (HP:0001249), sagittal craniosynostosis (HP:0004442), bitemporal narrowing (HP:0000341), short hands (HP:0004279), tapering fingers (HP:0001182), cryptorchidism (HP:0000028).	1	1	Johan den Dunnen
00210002	-	-	-	F	-	Germany	-	-	0	-	-	-	HP:0007359 (Focal seizures); HP:0002197 (Generalized seizures); HP:0012638 (Abnormality of nervous system physiology)	1	1	Andreas Laner
00269907	-	-	-	?	-	-	-	-	0	-	-	?	Global developmental delay (HP:0001263); Muscular hypotonia of the trunk (HP:0008936); Poor head control (HP:0002421); Spasticity (HP:0001257); Inability to walk (HP:0002540); Abnormal visual fixation (HP:0025404); Open mouth (HP:0000194); High palate (HP:0000218); Congenital contracture (HP:0002803)	1	1	IMGAG
00292962	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	0	-	-	?	-	1	3	Mohammed Faruq
00292963	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	0	-	-	?	-	1	1	Mohammed Faruq
00292964	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	0	-	-	?	-	1	2	Mohammed Faruq
00292965	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	0	-	-	?	-	1	3	Mohammed Faruq
00295578	-	-	-	F	-	-	-	-	0	-	-	?	Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638)	1	1	Andreas Laner
00296850	-	-	-	M	-	-	-	-	0	-	-	?	Epileptic spasms (HP:0011097); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Neurodevelopmental abnormality (HP:0012759); Abnormal muscle tone (HP:0003808)	1	1	Andreas Laner
00299688	-	-	-	F	-	-	-	-	0	-	-	?	Epileptic encephalopathy (HP:0200134); Abnormality of the nervous system (HP:0000707)	1	1	Andreas Laner
00301387	-	-	-	M	-	Germany	-	-	0	-	-	?	Seizures (HP:0001250); Abnormality of the nervous system (HP:0000707)	1	1	Andreas Laner
00303006	Pat51	PubMed: Helbig 2016	-	-	-	United States	-	-	0	-	-	seizures	Epileptic encephalopathy, neonatal onset; age onset neonatal	1	1	Johan den Dunnen
00303007	Pat52	PubMed: Helbig 2016	-	-	-	United States	-	-	0	-	-	seizures	Epileptic encephalopathy, neonatal onset; age onset neonatal	1	1	Johan den Dunnen
00303008	Pat53	PubMed: Helbig 2016	-	-	-	United States	-	-	0	-	-	seizures	Epileptic encephalopathy, neonatal onset; age onset neonatal	1	1	Johan den Dunnen
00303009	Pat54	PubMed: Helbig 2016	-	-	-	United States	-	-	0	-	-	seizures	Benign Familial Neonatal Seizures; age onset neonatal	1	1	Johan den Dunnen
00303143	T24158	PubMed: Carvill 2013	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	0	-	-	EE	early onset epileptic encephalopathy	1	1	Johan den Dunnen
00303144	T23919	PubMed: Carvill 2013	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	0	-	-	EE	early onset epileptic encephalopathy/infantile spasms	1	1	Johan den Dunnen
00303149	T24019	PubMed: Carvill 2013	-	-	-	-	-	-	0	-	-	EE	epileptic encephalopathy	1	1	Johan den Dunnen
00303150	T23039	PubMed: Carvill 2013	-	-	-	-	-	-	0	-	-	EE	epileptic encephalopathy	1	1	Johan den Dunnen
00306224	130	-	-	M	-	China	-	-	-	-	-	BFNS1	-	1	1	Sha Hong
00308768	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	0	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00314863	Trio10	PubMed: Zhu 2015	-	M	-	Israel	-	-	0	-	-	?	Epileptic encephalopathy with severe intellectual disability and macrocephaly.	1	1	Johan den Dunnen
00317981	171279	-	-	M	?	Syria	-	-	0	-	-	BFNS1	Seizure, Neonatal seizure	1	1	Andreas Laner
00325391	Pat4	PubMed: Hong 2020	-	M	-	Taiwan	-	-	0	-	-	?	3d-onset seizures; general tonic seizures, apnea; no speech; 3y-hypotonia	1	1	Johan den Dunnen
00325392	Pat5	PubMed: Hong 2020	-	F	-	Taiwan	-	6m	0	-	-	?	3d-onset seizures; general tonic seizures; no speech; 1y-hypotonia	1	1	Johan den Dunnen
00330834	175044	-	-	M	?	Germany	-	-	0	-	-	BFNS1	Generalized-onset seizure, Complex, pronounced epilepsy, generalised, therapy with VPA and LMT in high doses, now seizure-free for 3 months	1	1	Andreas Laner

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

KCNQ2 (potassium voltage-gated channel, KQT-like su...)